diff --git a/README.md b/README.md index 22542eed0..3547c7361 100644 --- a/README.md +++ b/README.md @@ -364,6 +364,12 @@ The earth sciences folder contain subfolders for different data formats encounte - sequence/chr22_23800000-23980000.fa: Fasta file containing a section of chr22 - chr22_chr22_KI270734v1_random: directory for reference files using chr22 and chr22_KI270734v1_random, for paraphase - sequence/genome.fa.gz: Gzipped fasta file from GRCh38 with bases not within chr22:18912282-18936793 and chr22_KI270734v1_random:137587-162092 hard masked to N. + - genetic_map: directory containing genetic map of GRCh38 in various format + - .21/22.eagle.map.gz: tab delimited gzipped map with header: chr (no prefix), position, COMBINED_rate(cM/Mb) Genetic_Map(cM) + - .chr21/22.stitch.map: space delimited map with header: position, COMBINED_rate(cM/Mb) Genetic_Map(cM) + - .chr21/22.glimpse.map: tab delimited with header: pos (position), chr, cM (centiMorgan) + - .chr21/22.plink.map: space delimited map without header: chr, id (all empty "."), centiMorgan, position + - .chr21/22.minimac.map: tab delimited with header: #chr, position, chr, Genetic_Map(cM) - vcf - dbsnp: DBSnp file downsampled based on reference position - gnomAD: gnomAD file downsampled based on reference position @@ -386,6 +392,9 @@ The earth sciences folder contain subfolders for different data formats encounte - genome.fasta.gz.gzi: index file for 'genome.fasta.gz' - genome2.fasta: Reference fasta based on chr22:16600000-16800000 - genome3.fasta: Reference fasta based on chr19:45760000-45770300 + - genomeGRCh38_chr21_22.fa.gz: bgzipped version of GRCh38 fasta file containing whole chr21 and chr22 + - genomeGRCh38_chr21_22.fa.gz.fai: index file for 'genomeGRCh38_chr21_22.fa.gz' + - genomeGRCh38_chr21_22.fa.gz.gzi: index file for 'genomeGRCh38_chr21_22.fa.gz' - genome_motifs.txt: TF motifs used for cellranger-atac - genome.NC_012920_1.gb: Contains mtDNA reference genome in Genbank format - transcriptome.fasta: Reference transcriptome based on `genome.fasta` @@ -441,6 +450,10 @@ The earth sciences folder contain subfolders for different data formats encounte - 'example_hla_pe.sorted.bam': Sorted BAM file for HLATyping workflow / OptiType module. - 'example_hla_pe.sorted.bam.bai': Sorted BAM file index for HLATyping workflow / OptiType module. - mitochon_standin.recalibrated.sorted: copy of the old, smaller test2.paired_end.recalibrated.sorted, this is to be used to test mutect2's mitochondria mode, as the current recal bams are far too big. This should be replaced once rarediseases obtain an actual mitochondria sample. + - NA12878.chr21_22.1X.bam{.bai}: Full coverage (32X) bam file of individual NA12878 for chr21 and 22 between position 16570000-16610000 with index. + - NA12878.chr21_22.1X.bam{.bai}: Downsampled at 1X bam file of individual NA12878 for chr21 and 22 between position 16570000-16610000 with index. + - NA19401.chr21_22.1X.bam{.bai}: Full coverage (32X) bam file of individual NA19401 for chr21 and 22 between position 16570000-16610000 with index. + - NA19401.chr21_22.1X.bam{.bai}: Downsampled at 1X bam file of individual NA19401 for chr21 and 22 between position 16570000-16610000 with index. - test_illumina_mt: bam file containing mt data, to test eklipse - 'test3.single_end.markduplicates.sorted.bam': Mapped, sorted, and duplicate removed reads from ancient DNA across all human chromosomes on the hs37d5 human reference. Data from [ERR2857053](https://www.ebi.ac.uk/ena/browser/view/ERR2857053) downsampled to 10% of original reads. - 'test.rna.paired_end.bam': STAR-aligned, unsorted, paired-end RNAseq bam file from the test*rnaseq*{1,2}.fastq.gz: chr22 of sample GM12878 (SRA accession: SRX2900878) @@ -563,6 +576,9 @@ The earth sciences folder contain subfolders for different data formats encounte - vcf: - test.rnaseq.vcf: RNAseq vcf corresponding to `test.rnaseq_{1,2}` reads - test.genome_21.somatic_sv.vcf: Indels VCF corresponding to `test.paired_end.recalibrated.sorted` and `genome_21.fasta` generated with Manta + - NA12878.chr21_22.1X.glimpse2.vcf.gz{.csi}: Imputed variants of NA12878.chr21_22.1X.bam file with glimpse2 for chr21 and 22 between position 16570000-16610000 with index. + - NA19401.chr21_22.1X.glimpse2.vcf.gz{.csi}: Imputed variants of NA19401.chr21_22.1X.bam file with glimpse2 for chr21 and 22 between position 16570000-16610000 with index. + - NA12878_GIAB.chr21_22.vcf.gz{.csi}: Benchmarking variants file from Genome In A Bottle initiative for individual NA12878 for chr21 and 22 between position 16570000-16610000 with index. - NA12878*chrM.vcf.gz: mitochondrial variants corresponding to `testdata/NA12878_mito*{1,2}.fq.gz`from the`rarediseases` branch. - empty.vcf.gz: The RNAseq VCF with all variants removed - empty.vcf.gz.tbi: The index of the empty vcf @@ -642,6 +658,11 @@ The earth sciences folder contain subfolders for different data formats encounte - plink_simulated.pgen: case-control simulated variants dataset in PLINK 2 binary format - plink_simulated.psam: case-control simulated variants dataset in PLINK 2 binary format - plink_simulated.pvar: case-control simulated variants dataset in PLINK 2 binary format + - 1000GP.chr*.vcf.gz: Reference panel phased VCF of the 1000 Genome Project in various format to be used for imputation for chr21 and 22 between position 16570000-16610000 with index. + - 1000GP.chr*.hap/legend/samples.gz: Same as 1000GP.chr*.vcf.gz but converted to hap/legend/samples format with bcftools + - 1000GP.chr*.sites.vcf.gz: Variants informations present in 1000GP.chr*.vcf.gz obtain with `bcftools view -G -m 2 -M 2` + - 1000GP.chr*.posfile: Variants position in tabulated format without header: chr, position, ref, alt + - 1000GP.chr*.chunks.txt: chunks of the chromosome obtain with GLIMPSE_chunk - svsig: - NA03697B2_new.pbmm2.repeats.svsig.gz: structural variant file for NA03697B2_new.pbmm2.repeats.bam, created with PBSV discover version (2.9.0 default settings) diff --git a/data/genomics/homo_sapiens/README.md b/data/genomics/homo_sapiens/README.md index 05c16465c..31429e7f5 100644 --- a/data/genomics/homo_sapiens/README.md +++ b/data/genomics/homo_sapiens/README.md @@ -69,14 +69,10 @@ Following 'reference' vcf files are generated. All found in igenomes at `s3://ng ### Fasta -As base reference `s3://ngi-igenomes/igenomes/Homo_sapiens/GATK/GRCh38/Sequence/Chromosomes/chr22.fasta` was used. +As base reference `s3://ngi-igenomes/igenomes/Homo_sapiens/GATK/GRCh38/Sequence/Chromosomes/chr22.fasta` was used, then compressed and indexed. ```bash samtools faidx chr22.fasta chr22:16570000-16610000 > genome.fasta -``` -The corresponding compressed fasta and index files: - -```bash bgzip genome.fasta samtools faidx genome.fasta.gz ``` @@ -95,8 +91,19 @@ gatk BedToIntervalList -I genome.bed -SD genome.dict -O genome.interval_list A StrTableFile zip folder was created using GATK4: -````bash +```bash gatk ComposeSTRTableFile --reference genome.fasta --output genome_strtablefile.zip +``` + +For parallelization purpose a fasta with both chr21 and chr22 is obtain with + +```bash +REF_PATH="data/genomics/homo_sapiens/genome/genomeGRCh38" +wget -c -O- https://hgdownload.soe.ucsc.edu/goldenPath/hg38/bigZips/hg38.fa.gz | gunzip | bgzip > ${REF_PATH}.fa.bgz +samtools faidx ${REF_PATH}.fa.bgz chr21 chr22 | bgzip > ${REF_PATH}_chr21_22.fa.gz +samtools faidx ${REF_PATH}_chr21_22.fa.gz +rm ${REF_PATH}.fa.bgz* +``` ### SDF @@ -105,7 +112,7 @@ An SDF folder of the reference FASTA of chromosome 21 was created using: ```bash rtg format -o genome_sdf genome.fasta tar -czf genome_sdf.tar.gz genome_sdf/ -```` +``` ### GTF/GFF @@ -176,14 +183,37 @@ The genome map of GRCh38 have been generated as follow: ```bash # Download the reference genome map -PATH_GENOME=data/genomics/homo_sapiens/genome/ -MAP_GRCH38=genome.GRCh38 -wget https://storage.googleapis.com/broad-alkesgroup-public/Eagle/downloads/tables/genetic_map_hg38_withX.txt.gz -O ${PATH_GENOME}${MAP_GRCH38}.map.txt.gz -zcat ${PATH_GENOME}${MAP_GRCH38}.map.txt.gz | awk 'NR==1 { print $0 } NR>1 && /^22/ { print $1, $2, $3, $4 }' > ${PATH_GENOME}${MAP_GRCH38}.eagle.22.map -zcat ${PATH_GENOME}${MAP_GRCH38}.map.txt.gz | grep "^22" | awk -F' ' '{ print "chr"$1, $2, $4 }' > ${PATH_GENOME}${MAP_GRCH38}.glimpse.chr22.map -gzip ${PATH_GENOME}${MAP_GRCH38}.eagle.22.map -gzip ${PATH_GENOME}${MAP_GRCH38}.glimpse.chr22.map -wget https://github.com/rwdavies/QUILT/raw/refs/heads/master/maps/hg38/CEU-chr21-final.b38.txt.gz -O ${PATH_GENOME}chr21/sequence/${MAP_GRCH38}.stitch.chr21.txt.gz +MAP_GRCH38=data/genomics/homo_sapiens/genome/genetic_map/genome.GRCh38 +wget https://storage.googleapis.com/broad-alkesgroup-public/Eagle/downloads/tables/genetic_map_hg38_withX.txt.gz -O ${MAP_GRCH38}.eagle.map.gz +wget --no-check-certificate https://bochet.gcc.biostat.washington.edu/beagle/genetic_maps/plink.GRCh38.map.zip -O ${MAP_GRCH38}.plink.map.zip + +for chr in 21 22; do + # Eagle / hapmap format + zcat ${MAP_GRCH38}.eagle.map.gz \ + | awk -v CHR="$chr" 'BEGIN {OFS="\t"} NR==1 {print; next} $1 == CHR {print $1,$2,$3,$4}' \ + > ${MAP_GRCH38}.${chr}.eagle.map + + # Stitch or quilt format + awk 'BEGIN {OFS=" "} {print $2, $3, $4}' ${MAP_GRCH38}.${chr}.eagle.map \ + > ${MAP_GRCH38}.chr${chr}.stitch.map + + # Plink / bealge5 format + unzip -p ${MAP_GRCH38}.plink.map.zip chr_in_chrom_field/plink.chrchr${chr}.GRCh38.map > ${MAP_GRCH38}.chr${chr}.plink.map + + # Minimac format + awk 'BEGIN {OFS="\t"} NR==1 {print "#chr", "position", "Genetic_Map(cM)"} NR>1 {print $1, $4, $3}' \ + ${MAP_GRCH38}.chr${chr}.plink.map > ${MAP_GRCH38}.chr${chr}.minimac.map + + # Glimpse format + awk 'BEGIN {OFS="\t"} NR==1 {print "pos", "chr", "cM"} NR>1 {print $4, $1, $3}' \ + ${MAP_GRCH38}.chr${chr}.plink.map > ${MAP_GRCH38}.chr${chr}.glimpse.map + + # Compress files + gzip ${MAP_GRCH38}.${chr}.eagle.map +done + +rm ${MAP_GRCH38}.plink.map.zip +rm ${MAP_GRCH38}.eagle.map.gz ``` ## Alleles, Loci, GC and RT for `ASCAT` @@ -224,58 +254,82 @@ We focus on the sample GM12878 also known as NA12878 or HG001 depending on the p We need its data in different format for the chromosome 22. ```bash -REGION=chr22:16570000-16610000 +REGION_STRING="chr21:16570000-16610000 chr22:16570000-16610000" DIR_IND=data/genomics/homo_sapiens/illumina -# Beware huge initial file -wget -c ftp://ftp.sra.ebi.ac.uk/vol1/run/ERR323/{} -O $DIR_IND/NA12878.{cram,cram.crai} - -# Keep only the wanted region -samtools view \ - -bo $DIR_IND/bam/NA12878.chr22.bam $DIR_IND/NA12878.cram \ - ${REGION} -samtools index $DIR_IND/bam/NA12878.chr22.bam - -# Compute depth on region -MEAN_DEPTH=$(samtools coverage $DIR_IND/bam/NA12878.chr22.bam -r ${REGION} | \ - awk -F'\t' '(NR==2){ print $7}') -FRAC_DEPTH=$(echo "scale=5; 1/$MEAN_DEPTH" | bc) - -# Downsample the file to 1X -samtools view \ - -s 1${FRAC_DEPTH} \ - -bo $DIR_IND/bam/NA12878.chr22.1X.bam $DIR_IND/bam/NA12878.chr22.bam -samtools index $DIR_IND/bam/NA12878.chr22.1X.bam - -# Impute the data with GLIMPSE2 -PANEL_FILE=data/genomics/homo_sapiens/popgen/1000GP.chr22 -MAP_GRCH38=data/genomics/homo_sapiens/genome/genome.GRCh38 -GLIMPSE2_phase \ - --bam-file $DIR_IND/bam/NA12878.chr22.1X.bam \ - --ind-name NA12878 \ - --input-region $REGION \ - --output-region $REGION \ - --reference $PANEL_FILE.vcf.gz \ - --output $DIR_IND/vcf/NA12878.chr22.1X.vcf.gz - -bcftools index $DIR_IND/vcf/NA12878.chr22.1X.vcf.gz + +# Keep only the wanted region but might take some time to retrieve +samtools view -bo $DIR_IND/bam/NA12878.chr21_22.bam \ + ftp://ftp.sra.ebi.ac.uk/vol1/run/ERR323/ERR3239334/NA12878.final.cram \ + $REGION_STRING + +samtools view -bo $DIR_IND/bam/NA19401.chr21_22.bam \ + ftp://ftp.sra.ebi.ac.uk/vol1/run/ERR323/ERR3239749/NA19401.final.cram \ + $REGION_STRING + +for sample in NA19401 NA12878; do + + samtools index $DIR_IND/bam/$sample.chr21_22.bam + + # Mean depth is approximately of 32X + FRAC_DEPTH=$(echo "scale=5; 1/32" | bc) + echo "Mean depth: 32X → Downsampling fraction: $FRAC_DEPTH" + + # Downsample the file to 1X + samtools view \ + -s 1${FRAC_DEPTH} \ + -bo $DIR_IND/bam/$sample.chr21_22.1X.bam $DIR_IND/bam/$sample.chr21_22.bam + samtools index $DIR_IND/bam/$sample.chr21_22.1X.bam + + # Impute the data with GLIMPSE2 + for chr in chr21 chr22; do + PANEL_FILE=data/genomics/homo_sapiens/popgen/1000GP.$chr.vcf.gz + MAP_GRCH38=data/genomics/homo_sapiens/genome/genetic_map/genome.GRCh38.$chr.glimpse.map + GLIMPSE2_phase \ + --bam-file $DIR_IND/bam/$sample.chr21_22.1X.bam \ + --ind-name $sample \ + --input-region $chr:16570000-16610000 \ + --output-region $chr:16570000-16610000 \ + --map $MAP_GRCH38 \ + --reference $PANEL_FILE \ + --output $DIR_IND/vcf/$sample.$chr.1X.glimpse2.vcf.gz + + bcftools index $DIR_IND/vcf/$sample.$chr.1X.glimpse2.vcf.gz + done + + # Concatenate the VCF files + bcftools concat -O z -o $DIR_IND/vcf/$sample.1X.glimpse2.vcf.gz \ + $DIR_IND/vcf/$sample.chr21.1X.glimpse2.vcf.gz \ + $DIR_IND/vcf/$sample.chr22.1X.glimpse2.vcf.gz + + # Index the combined VCF + bcftools index $DIR_IND/vcf/$sample.chr21_22.1X.glimpse2.vcf.gz + + rm $DIR_IND/vcf/$sample.chr* +done # Variants benchmarking +# Download the VCF file wget -c ftp://ftp-trace.ncbi.nlm.nih.gov/ReferenceSamples/giab/release/NA12878_HG001/NISTv4.2.1/GRCh38/HG001_GRCh38_1_22_v4.2.1_benchmark.vcf.gz -O $DIR_IND/NA12878.vcf.gz + +# Download the TBI file wget -c ftp://ftp-trace.ncbi.nlm.nih.gov/ReferenceSamples/giab/release/NA12878_HG001/NISTv4.2.1/GRCh38/HG001_GRCh38_1_22_v4.2.1_benchmark.vcf.gz.tbi -O $DIR_IND/NA12878.vcf.gz.tbi # Renaming sample file echo "HG001 NA12878" > sample_renaming.txt +REGION_STRING="chr21:16570000-16610000,chr22:16570000-16610000" + # Normalize and keep only rename variants ID bcftools norm -m +any $DIR_IND/NA12878.vcf.gz \ - --regions ${REGION} --threads 4 -Ov | \ + -r ${REGION_STRING} --threads 4 -Ov | \ bcftools reheader --samples sample_renaming.txt | \ bcftools annotate --threads 4 -Oz \ --set-id '%CHROM\:%POS\:%REF\:%FIRST_ALT' \ - -o $DIR_IND/vcf/NA12878_GIAB.chr22.vcf.gz + -o $DIR_IND/vcf/NA12878_GIAB.chr21_22.vcf.gz # Index the file -bcftools index -f $DIR_IND/vcf/NA12878_GIAB.chr22.vcf.gz --threads 4 +bcftools index -f $DIR_IND/vcf/NA12878_GIAB.chr21_22.vcf.gz --threads 4 +rm $DIR_IND/NA12878.vcf.gz* ``` #### `CNVKIT` data diff --git a/data/genomics/homo_sapiens/genome/genetic_map/genome.GRCh38.21.eagle.map.gz b/data/genomics/homo_sapiens/genome/genetic_map/genome.GRCh38.21.eagle.map.gz new file mode 100644 index 000000000..1df3ce511 Binary files /dev/null and b/data/genomics/homo_sapiens/genome/genetic_map/genome.GRCh38.21.eagle.map.gz differ diff --git a/data/genomics/homo_sapiens/genome/genetic_map/genome.GRCh38.22.eagle.map.gz b/data/genomics/homo_sapiens/genome/genetic_map/genome.GRCh38.22.eagle.map.gz new file mode 100644 index 000000000..39910f592 Binary files /dev/null and b/data/genomics/homo_sapiens/genome/genetic_map/genome.GRCh38.22.eagle.map.gz differ diff --git a/data/genomics/homo_sapiens/genome/genetic_map/genome.GRCh38.chr21.glimpse.map b/data/genomics/homo_sapiens/genome/genetic_map/genome.GRCh38.chr21.glimpse.map new file mode 100644 index 000000000..556635772 --- /dev/null +++ b/data/genomics/homo_sapiens/genome/genetic_map/genome.GRCh38.chr21.glimpse.map @@ -0,0 +1,44618 @@ +pos chr cM +12968320 chr21 0.584144 +12970435 chr21 0.585474 +12977762 chr21 0.589953 +12983047 chr21 0.5932 +12985513 chr21 0.594723 +12987409 chr21 0.595995 +12988569 chr21 0.596825 +12988657 chr21 0.596888 +12990722 chr21 0.598372 +12996886 chr21 0.602811 +13005105 chr21 0.608771 +13008053 chr21 0.610914 +13008350 chr21 0.61113 +13010184 chr21 0.612463 +13036261 chr21 0.631425 +13042551 chr21 0.636014 +13053221 chr21 0.643835 +13054700 chr21 0.645039 +13073695 chr21 0.662025 +13099938 chr21 0.686725 +13110005 chr21 0.710975 +13139827 chr21 0.783433 +13213132 chr21 0.843648 +13222943 chr21 0.851808 +13224688 chr21 0.854385 +13227809 chr21 0.859031 +13229094 chr21 0.860983 +13231256 chr21 0.864264 +13232040 chr21 0.864855 +13234719 chr21 0.865045 +13240712 chr21 0.865468 +13240882 chr21 0.865483 +13241380 chr21 0.865526 +13241672 chr21 0.865557 +13255384 chr21 0.867053 +13258267 chr21 0.867151 +13258634 chr21 0.867158 +13259274 chr21 0.867164 +13261103 chr21 0.86717 +13264585 chr21 0.86718 +13268079 chr21 0.86719 +13270143 chr21 0.867195 +13274232 chr21 0.867207 +13275529 chr21 0.867211 +13275836 chr21 0.867212 +13277477 chr21 0.867217 +13280587 chr21 0.86723 +13283230 chr21 0.867252 +13284448 chr21 0.867516 +13286509 chr21 0.867571 +13289671 chr21 0.867656 +13292630 chr21 0.868265 +13293652 chr21 0.868469 +13293843 chr21 0.868575 +13294763 chr21 0.869052 +13297610 chr21 0.869314 +13297803 chr21 0.869332 +13297868 chr21 0.869338 +13298852 chr21 0.869429 +13301529 chr21 0.869675 +13304980 chr21 0.869993 +13305033 chr21 0.869998 +13308956 chr21 0.870349 +13313275 chr21 0.870731 +13313842 chr21 0.870785 +13314336 chr21 0.870833 +13315250 chr21 0.87092 +13316504 chr21 0.871091 +13319046 chr21 0.871643 +13319991 chr21 0.871798 +13320912 chr21 0.871941 +13321060 chr21 0.871967 +13327484 chr21 0.873193 +13327565 chr21 0.873241 +13339843 chr21 0.881461 +13342566 chr21 0.88329 +13342905 chr21 0.883459 +13345210 chr21 0.884512 +13353062 chr21 0.887308 +13362765 chr21 0.888153 +13363169 chr21 0.888185 +13364137 chr21 0.888252 +13367143 chr21 0.888456 +13370521 chr21 0.888685 +13370996 chr21 0.888717 +13371725 chr21 0.888766 +13372587 chr21 0.888825 +13377078 chr21 0.889129 +13377546 chr21 0.889161 +13382924 chr21 0.889525 +13384040 chr21 0.8896 +13384355 chr21 0.889622 +13384652 chr21 0.889642 +13384722 chr21 0.889647 +13386583 chr21 0.889773 +13389646 chr21 0.88998 +13390602 chr21 0.890045 +13394104 chr21 0.890282 +13394880 chr21 0.890344 +13396022 chr21 0.89088 +13396725 chr21 0.891027 +13397141 chr21 0.891078 +13398856 chr21 0.891281 +13399490 chr21 0.891356 +13400911 chr21 0.891525 +13401195 chr21 0.891559 +13403408 chr21 0.891824 +13407058 chr21 0.892261 +13408015 chr21 0.892383 +13409611 chr21 0.892639 +13409638 chr21 0.892643 +13411277 chr21 0.892913 +13411964 chr21 0.893032 +13413297 chr21 0.893255 +13413478 chr21 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31.285094 30753137 +chr21 . 31.285102 30756770 +chr21 . 31.285108 30759640 +chr21 . 31.285111 30760671 +chr21 . 31.285112 30761192 +chr21 . 31.285118 30763920 +chr21 . 31.285119 30764292 +chr21 . 31.285133 30769946 +chr21 . 31.285135 30770635 +chr21 . 31.285574 30771405 +chr21 . 31.28558 30776291 +chr21 . 31.285582 30778381 +chr21 . 31.285584 30780002 +chr21 . 31.285586 30781538 +chr21 . 31.285589 30783465 +chr21 . 31.28559 30783748 +chr21 . 31.285599 30786902 +chr21 . 31.285726 30787962 +chr21 . 31.286423 30788836 +chr21 . 31.287098 30790585 +chr21 . 31.287414 30793243 +chr21 . 31.28743 30793540 +chr21 . 31.287466 30796165 +chr21 . 31.287476 30796857 +chr21 . 31.287481 30797211 +chr21 . 31.287521 30800122 +chr21 . 31.287536 30801235 +chr21 . 31.287593 30801359 +chr21 . 31.288116 30802493 +chr21 . 31.288175 30806956 +chr21 . 31.288187 30807925 +chr21 . 31.288198 30808716 +chr21 . 31.2882 30808745 +chr21 . 31.288229 30809037 +chr21 . 31.288328 30809694 +chr21 . 31.28853 30810708 +chr21 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31.537849 30862482 +chr21 . 31.537854 30863460 +chr21 . 31.537865 30865500 +chr21 . 31.53787 30866332 +chr21 . 31.537875 30867346 +chr21 . 31.537892 30870455 +chr21 . 31.537892 30870530 +chr21 . 31.537913 30874357 +chr21 . 31.537914 30874593 +chr21 . 31.537936 30878633 +chr21 . 31.53794 30879355 +chr21 . 31.537943 30879818 +chr21 . 31.53796 30881194 +chr21 . 31.537971 30882034 +chr21 . 31.548666 30884381 +chr21 . 31.551296 30884958 +chr21 . 31.555574 30885900 +chr21 . 31.557135 30886244 +chr21 . 31.562811 30887495 +chr21 . 31.563597 30887756 +chr21 . 31.566511 30888945 +chr21 . 31.567396 30889322 +chr21 . 31.568164 30892612 +chr21 . 31.568229 30892892 +chr21 . 31.568332 30893335 +chr21 . 31.5687 30894925 +chr21 . 31.568809 30895398 +chr21 . 31.569432 30898088 +chr21 . 31.569815 30899740 +chr21 . 31.570076 30900866 +chr21 . 31.570133 30901006 +chr21 . 31.572224 30903364 +chr21 . 31.574778 30906390 +chr21 . 31.576521 30908568 +chr21 . 31.57708 30909269 +chr21 . 31.578545 30911118 +chr21 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32.190362 31193788 +chr21 . 32.19113 31195267 +chr21 . 32.191246 31195485 +chr21 . 32.191385 31195808 +chr21 . 32.191435 31196095 +chr21 . 32.191707 31197678 +chr21 . 32.191715 31197749 +chr21 . 32.191716 31197769 +chr21 . 32.191724 31198263 +chr21 . 32.191725 31198346 +chr21 . 32.191726 31198396 +chr21 . 32.191726 31198457 +chr21 . 32.191731 31198827 +chr21 . 32.191733 31198973 +chr21 . 32.191734 31199068 +chr21 . 32.191738 31199369 +chr21 . 32.191747 31200145 +chr21 . 32.191766 31201659 +chr21 . 32.191771 31202096 +chr21 . 32.192503 31202760 +chr21 . 32.19287 31203089 +chr21 . 32.193518 31204134 +chr21 . 32.19375 31206408 +chr21 . 32.193801 31206909 +chr21 . 32.193851 31207403 +chr21 . 32.193862 31207514 +chr21 . 32.19404 31209398 +chr21 . 32.19418 31210877 +chr21 . 32.194316 31212321 +chr21 . 32.194373 31212930 +chr21 . 32.194378 31212984 +chr21 . 32.194425 31213493 +chr21 . 32.194575 31215140 +chr21 . 32.194636 31215830 +chr21 . 32.194672 31216255 +chr21 . 32.194703 31216624 +chr21 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32.350707 31332857 +chr21 . 32.351432 31334035 +chr21 . 32.351439 31334045 +chr21 . 32.351802 31334469 +chr21 . 32.351923 31334610 +chr21 . 32.352044 31334749 +chr21 . 32.35241 31335148 +chr21 . 32.352529 31335269 +chr21 . 32.353193 31335866 +chr21 . 32.353283 31335986 +chr21 . 32.353376 31336126 +chr21 . 32.353481 31336288 +chr21 . 32.353987 31337120 +chr21 . 32.354196 31338706 +chr21 . 32.35456 31340138 +chr21 . 32.354982 31341796 +chr21 . 32.355027 31341974 +chr21 . 32.355315 31343131 +chr21 . 32.355566 31344139 +chr21 . 32.35564 31344438 +chr21 . 32.355667 31344553 +chr21 . 32.356206 31346818 +chr21 . 32.356997 31347662 +chr21 . 32.357068 31347738 +chr21 . 32.357133 31347809 +chr21 . 32.357408 31348107 +chr21 . 32.357433 31348134 +chr21 . 32.357499 31348205 +chr21 . 32.357646 31348364 +chr21 . 32.358536 31349339 +chr21 . 32.358918 31349739 +chr21 . 32.359327 31350039 +chr21 . 32.360195 31350874 +chr21 . 32.360311 31351374 +chr21 . 32.360423 31352098 +chr21 . 32.360473 31352422 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31378175 +chr21 . 32.425211 31379433 +chr21 . 32.425614 31380807 +chr21 . 32.425625 31380841 +chr21 . 32.426069 31382222 +chr21 . 32.426077 31382245 +chr21 . 32.426206 31382566 +chr21 . 32.426231 31382622 +chr21 . 32.426625 31383466 +chr21 . 32.426683 31383591 +chr21 . 32.426889 31384013 +chr21 . 32.427435 31385059 +chr21 . 32.427897 31385687 +chr21 . 32.42873 31386676 +chr21 . 32.428891 31386866 +chr21 . 32.428911 31386890 +chr21 . 32.428916 31386895 +chr21 . 32.428969 31386959 +chr21 . 32.42958 31387686 +chr21 . 32.429788 31387934 +chr21 . 32.429892 31388058 +chr21 . 32.43161 31390097 +chr21 . 32.432262 31390873 +chr21 . 32.432463 31390918 +chr21 . 32.456032 31393653 +chr21 . 32.525236 31396086 +chr21 . 32.562231 31397391 +chr21 . 32.575749 31398042 +chr21 . 32.586083 31401469 +chr21 . 32.588997 31402584 +chr21 . 32.59006 31402991 +chr21 . 32.590158 31403026 +chr21 . 32.591578 31403505 +chr21 . 32.592285 31403706 +chr21 . 32.5926 31403794 +chr21 . 32.600852 31407515 +chr21 . 32.601935 31408431 +chr21 . 32.603862 31412017 +chr21 . 32.604788 31413834 +chr21 . 32.60485 31413958 +chr21 . 32.605242 31414737 +chr21 . 32.605252 31414757 +chr21 . 32.605334 31414920 +chr21 . 32.605429 31415109 +chr21 . 32.605641 31415529 +chr21 . 32.605993 31416225 +chr21 . 32.606005 31416250 +chr21 . 32.607206 31418639 +chr21 . 32.607278 31418783 +chr21 . 32.607576 31419376 +chr21 . 32.608183 31420578 +chr21 . 32.608196 31420603 +chr21 . 32.608255 31420704 +chr21 . 32.608632 31421272 +chr21 . 32.60932 31422132 +chr21 . 32.609461 31422322 +chr21 . 32.609661 31422643 +chr21 . 32.6107 31424350 +chr21 . 32.611792 31426264 +chr21 . 32.612994 31428377 +chr21 . 32.613767 31429734 +chr21 . 32.613783 31429759 +chr21 . 32.614547 31430899 +chr21 . 32.614676 31431085 +chr21 . 32.615128 31431723 +chr21 . 32.616037 31433058 +chr21 . 32.616446 31433662 +chr21 . 32.617373 31435033 +chr21 . 32.61749 31435205 +chr21 . 32.630294 31435816 +chr21 . 32.631004 31435844 +chr21 . 32.701166 31438586 +chr21 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16581789 G A +chr22 16581806 A G +chr22 16581988 T C +chr22 16582037 A C +chr22 16582088 G A +chr22 16582214 C T +chr22 16582215 G A +chr22 16582219 A C +chr22 16582286 C T +chr22 16582319 T C +chr22 16582377 C T +chr22 16582379 A G +chr22 16582440 T C +chr22 16582469 A G +chr22 16582550 G A +chr22 16582595 G A +chr22 16582640 C G +chr22 16582709 C G +chr22 16582713 T C +chr22 16582723 A T +chr22 16582829 G A +chr22 16582832 A G +chr22 16582871 C T +chr22 16582873 C T +chr22 16582874 G A +chr22 16582981 C T +chr22 16582988 G A +chr22 16583120 A G +chr22 16583145 G A +chr22 16583181 G A +chr22 16583361 T C +chr22 16583421 G A +chr22 16583429 G A +chr22 16583442 T C +chr22 16583531 C A +chr22 16583574 G A +chr22 16583688 A T +chr22 16583690 T A +chr22 16583725 C T +chr22 16583743 T G +chr22 16583762 A G +chr22 16583803 C T +chr22 16583821 C T +chr22 16583828 G C +chr22 16583927 C T +chr22 16583978 G C +chr22 16583993 C A +chr22 16583995 C T +chr22 16584040 C T +chr22 16584133 T C +chr22 16584187 T C +chr22 16584189 T A +chr22 16584287 C T +chr22 16584367 G A +chr22 16584421 G A +chr22 16584441 T A +chr22 16584460 T C +chr22 16584466 G A +chr22 16584473 T C +chr22 16584474 C T +chr22 16584510 C T +chr22 16584525 C T +chr22 16584559 G A +chr22 16584567 G A +chr22 16584595 G A +chr22 16584640 G A +chr22 16584655 A G +chr22 16584658 A T +chr22 16584659 G C +chr22 16584676 C T +chr22 16584709 A G +chr22 16584728 T C +chr22 16584763 G A +chr22 16584777 C T +chr22 16584826 T C +chr22 16584862 C T +chr22 16584927 G A +chr22 16585046 G C +chr22 16585061 C T +chr22 16585071 G C +chr22 16585088 A C +chr22 16585103 A G +chr22 16585130 T C +chr22 16585144 G A +chr22 16585240 T C +chr22 16585279 T C +chr22 16585412 G T +chr22 16585444 C T +chr22 16585510 C G +chr22 16585512 T C +chr22 16585529 C T +chr22 16585538 G A +chr22 16585569 G A +chr22 16585589 G A +chr22 16585603 G A +chr22 16585615 A C +chr22 16585633 G A +chr22 16585657 A G +chr22 16585662 A G +chr22 16585706 A G +chr22 16585727 G A +chr22 16585732 C T +chr22 16585810 T C +chr22 16585842 C T +chr22 16585878 G A +chr22 16585978 C T +chr22 16586021 G A +chr22 16586034 A G +chr22 16586041 G A +chr22 16586057 C T +chr22 16586115 T C +chr22 16586136 T C +chr22 16586175 C G +chr22 16586336 G A +chr22 16586538 A C +chr22 16586614 G T +chr22 16586676 A G +chr22 16586718 A T +chr22 16586780 T C +chr22 16586846 C A +chr22 16586955 C G +chr22 16586966 C T +chr22 16587166 A G +chr22 16587172 C T +chr22 16587269 C T +chr22 16587345 T C +chr22 16587385 T C +chr22 16587462 G A +chr22 16587510 C T +chr22 16587514 C T +chr22 16587557 T G +chr22 16587576 C T +chr22 16587654 G A +chr22 16587679 C T +chr22 16587697 C T +chr22 16587710 G A +chr22 16587858 C T +chr22 16587873 A G +chr22 16587886 A C +chr22 16588004 G A +chr22 16588048 C T +chr22 16588091 C A +chr22 16588098 A G +chr22 16588119 G C +chr22 16588174 T A +chr22 16588240 G A +chr22 16588265 G A +chr22 16588303 A G +chr22 16588315 G A +chr22 16588413 G A +chr22 16588500 C T +chr22 16588543 A C +chr22 16588583 A G +chr22 16588599 G A +chr22 16588651 T C +chr22 16588750 G A +chr22 16588854 G C +chr22 16588937 C T +chr22 16588968 C A +chr22 16589051 G A +chr22 16589061 C T +chr22 16589089 C T +chr22 16589092 A G +chr22 16589121 T C +chr22 16589199 C T +chr22 16589211 A G +chr22 16589219 A G +chr22 16589230 C G +chr22 16589246 C T +chr22 16589278 T C +chr22 16589307 C A +chr22 16589382 T G +chr22 16589451 G A +chr22 16589491 G A +chr22 16589492 A G +chr22 16589517 C A +chr22 16589562 G A +chr22 16589563 C A +chr22 16589568 C T +chr22 16589617 G A +chr22 16589780 C T +chr22 16589782 T C +chr22 16589874 C G +chr22 16589968 G C +chr22 16590051 G A +chr22 16590153 A G +chr22 16590164 A G +chr22 16590223 G A +chr22 16590235 C T +chr22 16590245 T C +chr22 16590260 A G +chr22 16590287 T C +chr22 16590297 G A +chr22 16590386 A G +chr22 16590425 G T +chr22 16590429 T A +chr22 16590430 C T +chr22 16590452 G T +chr22 16590464 G A +chr22 16590478 G T +chr22 16590562 G A +chr22 16590623 G A +chr22 16590676 G A +chr22 16590687 T C +chr22 16590716 G A +chr22 16590757 G T +chr22 16590764 C T +chr22 16590783 A G +chr22 16590804 G A +chr22 16590866 T C +chr22 16590972 G C +chr22 16591009 G A +chr22 16591037 C G +chr22 16591110 C G +chr22 16591137 G C +chr22 16591145 C T +chr22 16591196 A C +chr22 16591249 A C +chr22 16591313 C T +chr22 16591380 C T +chr22 16591457 C T +chr22 16591494 G T +chr22 16591510 G A +chr22 16591521 G T +chr22 16591592 C T +chr22 16591593 A G +chr22 16591615 G A +chr22 16591617 T C +chr22 16591778 G A +chr22 16591816 A G +chr22 16591831 C T +chr22 16591853 G T +chr22 16591857 T C +chr22 16591891 C T +chr22 16591934 C T +chr22 16591947 G A +chr22 16591955 T A +chr22 16592138 G A +chr22 16592143 G A +chr22 16592153 C T +chr22 16592176 A G +chr22 16592216 G A +chr22 16592229 C T +chr22 16592241 C T +chr22 16592244 C A +chr22 16592258 G A +chr22 16592260 C T +chr22 16592263 G C +chr22 16592279 C T +chr22 16592308 C T +chr22 16592329 A C +chr22 16592335 A G +chr22 16592342 G A +chr22 16592384 C T +chr22 16592385 G A +chr22 16592551 G A +chr22 16592552 G A +chr22 16592585 C T +chr22 16592604 G C +chr22 16592631 G A +chr22 16592634 G A +chr22 16592645 A G +chr22 16592698 T G +chr22 16592704 C T +chr22 16592765 C A +chr22 16592785 G A +chr22 16592856 G A +chr22 16592911 G C +chr22 16592949 A G +chr22 16592978 T C +chr22 16593066 C T +chr22 16593092 C G +chr22 16593093 T G +chr22 16593146 C T +chr22 16593178 T C +chr22 16593200 C A +chr22 16593214 G A +chr22 16593260 A G +chr22 16593295 A G +chr22 16593344 C A +chr22 16593360 G C +chr22 16593387 T A +chr22 16593413 C T +chr22 16593460 G A +chr22 16593522 G A +chr22 16593528 G A +chr22 16593537 A G +chr22 16593560 G A +chr22 16593588 A G +chr22 16593599 G A +chr22 16593732 A C +chr22 16593738 T G +chr22 16593846 T C +chr22 16593866 C A +chr22 16593875 G T +chr22 16593959 C A +chr22 16594004 C T +chr22 16594047 T C +chr22 16594201 C T +chr22 16594202 G A +chr22 16594222 G A +chr22 16594247 G T +chr22 16594463 C A +chr22 16594469 A G +chr22 16594519 C T +chr22 16594536 C T +chr22 16594539 C T +chr22 16594574 C T +chr22 16594586 A G +chr22 16594601 C T +chr22 16594657 T C +chr22 16594658 G A +chr22 16594716 G A +chr22 16594756 C T +chr22 16594757 G A +chr22 16594761 C T +chr22 16594828 G A +chr22 16594832 T C +chr22 16594909 C T +chr22 16595012 G A +chr22 16595059 C T +chr22 16595105 C T +chr22 16595189 T C +chr22 16595192 C A +chr22 16595261 G C +chr22 16595383 G A +chr22 16595428 C T +chr22 16595434 A C +chr22 16595509 T C +chr22 16595530 C T +chr22 16595531 G A +chr22 16595536 G T +chr22 16595592 G T +chr22 16595695 T C +chr22 16595714 T C +chr22 16595771 A T +chr22 16595836 A T +chr22 16595917 C T +chr22 16595923 A T +chr22 16595959 T C +chr22 16595977 A G +chr22 16595988 C T +chr22 16596031 T C +chr22 16596069 G A +chr22 16596165 A T +chr22 16596348 C G +chr22 16596370 C G +chr22 16596492 C T +chr22 16596514 A C +chr22 16596530 A C +chr22 16596648 G A +chr22 16596754 A C +chr22 16596843 T C +chr22 16596916 G A +chr22 16596955 C T +chr22 16597011 C T +chr22 16597012 G A +chr22 16597017 C T +chr22 16597059 G A +chr22 16597090 G A +chr22 16597131 A C +chr22 16597215 C T +chr22 16597349 T C +chr22 16597458 A G +chr22 16597518 C T +chr22 16597551 C T +chr22 16597645 G A +chr22 16597675 G A +chr22 16597682 C T +chr22 16597683 G A +chr22 16597734 T C +chr22 16597745 A T +chr22 16597884 T C +chr22 16597919 G A +chr22 16597966 T A +chr22 16597978 C T +chr22 16598069 G C +chr22 16598088 C T +chr22 16598146 G A +chr22 16598168 G T +chr22 16598171 G A +chr22 16598200 G A +chr22 16598246 C T +chr22 16598300 A T +chr22 16598304 T C +chr22 16598306 G T +chr22 16598372 G A +chr22 16598415 G A +chr22 16598418 G A +chr22 16598452 C T +chr22 16598454 C G +chr22 16598455 G A +chr22 16598505 C T +chr22 16598516 C T +chr22 16598527 G C +chr22 16598552 C T +chr22 16598574 G A +chr22 16598579 G A +chr22 16598593 G A +chr22 16598635 C T +chr22 16598646 C T +chr22 16598680 C T +chr22 16598729 C T +chr22 16598783 C T +chr22 16598846 G A +chr22 16598912 T C +chr22 16598950 C T +chr22 16598974 A G +chr22 16599021 A G +chr22 16599036 T C +chr22 16599054 G A +chr22 16599104 T A +chr22 16599300 G C +chr22 16599320 G A +chr22 16599347 C T +chr22 16599364 C G +chr22 16599419 G A +chr22 16599464 C T +chr22 16599488 A G +chr22 16599630 C T +chr22 16599637 G A +chr22 16599732 C T +chr22 16599739 T C +chr22 16599836 C T +chr22 16599839 G A +chr22 16599940 T A +chr22 16599974 G A +chr22 16600150 C T +chr22 16600324 T A +chr22 16600370 G T +chr22 16600377 T A +chr22 16600381 A G +chr22 16600439 C G +chr22 16600463 C A +chr22 16600464 C T +chr22 16600535 A T +chr22 16600563 C G +chr22 16600589 G C +chr22 16600679 G A +chr22 16600746 G T +chr22 16600760 C A +chr22 16600816 A G +chr22 16600873 G A +chr22 16601107 C T +chr22 16601145 C T +chr22 16601261 G C +chr22 16601265 C A +chr22 16601267 G C +chr22 16601299 C A +chr22 16601327 G T +chr22 16601332 G C +chr22 16601333 G C +chr22 16601334 G A +chr22 16601335 G A +chr22 16601340 G A +chr22 16601379 G C +chr22 16601433 G A +chr22 16601448 C T +chr22 16601452 A T +chr22 16601455 G A +chr22 16601475 T G +chr22 16601485 G A +chr22 16601549 C T +chr22 16601550 G A +chr22 16601556 G T +chr22 16601581 G T +chr22 16601597 G A +chr22 16601620 C T +chr22 16601629 C G +chr22 16601643 C T +chr22 16601709 G A +chr22 16601727 C G +chr22 16601735 C A +chr22 16601741 C A +chr22 16601753 C T +chr22 16601759 C A +chr22 16601772 C T +chr22 16601781 C T +chr22 16601783 T C +chr22 16601823 C T +chr22 16601842 A T +chr22 16601883 G A +chr22 16601911 G T +chr22 16601942 G T +chr22 16602013 G A +chr22 16602017 C T +chr22 16602060 C G +chr22 16602092 G A +chr22 16602112 C A +chr22 16602128 G C +chr22 16602153 C A +chr22 16602155 G C +chr22 16602194 C G +chr22 16602200 A G +chr22 16602205 G A +chr22 16602253 G A +chr22 16602262 G A +chr22 16602265 C T +chr22 16602279 G C +chr22 16602359 C G +chr22 16602392 C T +chr22 16602395 C T +chr22 16602419 C T +chr22 16602435 C G +chr22 16602577 C T +chr22 16602649 C T +chr22 16602658 C T +chr22 16602700 C G +chr22 16602843 C T +chr22 16602848 G A +chr22 16602857 G A +chr22 16602866 C G +chr22 16602905 T A +chr22 16603053 G A +chr22 16603189 G A +chr22 16603212 C G +chr22 16603247 C A +chr22 16603347 T G +chr22 16603386 T G +chr22 16603423 G A +chr22 16603486 A G +chr22 16603502 A G +chr22 16603512 A G +chr22 16603539 C T +chr22 16603580 T C +chr22 16603611 G C +chr22 16603655 A G +chr22 16603719 A G +chr22 16603763 C G +chr22 16603807 C T +chr22 16603827 C G +chr22 16603838 C G +chr22 16603871 T A +chr22 16604020 A T +chr22 16604135 A G +chr22 16604195 G C +chr22 16604203 G A +chr22 16604208 T C +chr22 16604219 C T +chr22 16604349 C A +chr22 16604350 C T +chr22 16604352 G C +chr22 16604370 T C +chr22 16604386 T A +chr22 16604399 G T +chr22 16604431 A G +chr22 16604529 C T +chr22 16604553 A C +chr22 16604771 T G +chr22 16604818 G T +chr22 16604856 A G +chr22 16604916 A C +chr22 16604952 C T +chr22 16604981 C T +chr22 16605002 T C +chr22 16605009 T C +chr22 16605176 T C +chr22 16605250 A G +chr22 16605272 G A +chr22 16605312 G A +chr22 16605394 T C +chr22 16605404 C T +chr22 16605499 C G +chr22 16605724 G A +chr22 16605789 T G +chr22 16605852 C T +chr22 16605889 A G +chr22 16605898 T C +chr22 16605901 T C +chr22 16605918 T C +chr22 16605945 A G +chr22 16605952 A G +chr22 16605989 A G +chr22 16606109 A C +chr22 16606116 G A +chr22 16606200 T G +chr22 16606233 C T +chr22 16606234 G A +chr22 16606349 A G +chr22 16606393 G A +chr22 16606413 A G +chr22 16606428 T G +chr22 16606470 G A +chr22 16606491 C T +chr22 16606519 T C +chr22 16606661 T C +chr22 16606766 C A +chr22 16606815 G A +chr22 16606816 C A +chr22 16606992 G A +chr22 16607089 C T +chr22 16607099 T G +chr22 16607114 A T +chr22 16607128 A T +chr22 16607196 T C +chr22 16607202 G T +chr22 16607224 A G +chr22 16607245 G C +chr22 16607324 G A +chr22 16607342 A C +chr22 16607371 C T +chr22 16607375 C G +chr22 16607391 G A +chr22 16607490 G C +chr22 16607523 T C +chr22 16607527 T C +chr22 16607703 T G +chr22 16607704 T G +chr22 16607754 G A +chr22 16607756 G C +chr22 16607762 G A +chr22 16607785 C T +chr22 16607844 C G +chr22 16607853 C T +chr22 16607865 G A +chr22 16607971 G C +chr22 16607987 C G +chr22 16608025 C T +chr22 16608048 A G +chr22 16608059 T C +chr22 16608069 A G +chr22 16608093 G T +chr22 16608115 G A +chr22 16608126 C T +chr22 16608171 G A +chr22 16608218 C T +chr22 16608219 G A +chr22 16608243 G A +chr22 16608247 A G +chr22 16608261 A C +chr22 16608270 A G +chr22 16608286 G T +chr22 16608331 C T +chr22 16608332 G A +chr22 16608338 G A +chr22 16608347 C T +chr22 16608350 C T +chr22 16608358 G T +chr22 16608454 G A +chr22 16608484 T A +chr22 16608553 G A +chr22 16608679 A G +chr22 16608714 G T +chr22 16608728 A T +chr22 16608749 G C +chr22 16608829 G C +chr22 16608895 G C +chr22 16608938 G A +chr22 16608986 C A +chr22 16608997 C T +chr22 16609015 G T +chr22 16609022 A C +chr22 16609031 C T +chr22 16609067 C T +chr22 16609081 C A +chr22 16609088 G A +chr22 16609113 C G +chr22 16609179 C T +chr22 16609185 G A +chr22 16609193 G A +chr22 16609221 C G +chr22 16609243 A G +chr22 16609246 C G +chr22 16609256 G A +chr22 16609258 C T +chr22 16609291 G C +chr22 16609308 T C +chr22 16609336 C T +chr22 16609403 T G +chr22 16609456 G A +chr22 16609457 G A +chr22 16609504 T A +chr22 16609569 G C +chr22 16609584 C T +chr22 16609597 G A +chr22 16609598 C T +chr22 16609599 G A +chr22 16609634 C T +chr22 16609682 G C +chr22 16609723 C T +chr22 16609734 T C +chr22 16609740 G T +chr22 16609790 G A +chr22 16609813 T C +chr22 16609821 G A +chr22 16609844 A G +chr22 16609894 G A +chr22 16609928 T C +chr22 16609938 G A +chr22 16609951 C T +chr22 16609972 C T +chr22 16609997 G A +chr22 16609999 G A diff --git a/data/genomics/homo_sapiens/popgen/README.md b/data/genomics/homo_sapiens/popgen/README.md index 06bc3f81a..a4c55c987 100644 --- a/data/genomics/homo_sapiens/popgen/README.md +++ b/data/genomics/homo_sapiens/popgen/README.md @@ -49,33 +49,48 @@ The data are phased and can be used as a panel of normal. The data has been generated as follow : ```bash -# Download phased panel -wget -c http://ftp.1000genomes.ebi.ac.uk/vol1/ftp/data_collections/1000G_2504_high_coverage/working/20201028_3202_phased/CCDG_14151_B01_GRM_WGS_2020-08-05_chr22.filtered.shapeit2-duohmm-phased.vcf.gz -O data/genomics/homo_sapiens/popgen/1000GP.chr22.full.vcf.gz - -PANEL_FILE=data/genomics/homo_sapiens/popgen/1000GP.chr22 -REGION=chr22:16570000-16610000 -# Normalize, select the region, keep only biallelic SNPs, rename variants ID and compute allele frequency -bcftools norm -m +any ${PANEL_FILE}.full.vcf.gz \ - --regions ${REGION} --threads 4 -Ov | \ - bcftools view \ - -m 2 -M 2 -v snps --threads 4 | \ - bcftools annotate --threads 4 -Ov \ - --set-id '%CHROM\:%POS\:%REF\:%FIRST_ALT' | \ - vcffixup - | bgzip -c > ${PANEL_FILE}.vcf.gz - -# Index the panel file -bcftools index -f ${PANEL_FILE}.vcf.gz --threads 4 - -# Convert to hap legend samples file set -bcftools convert --haplegendsample 1000GP.chr22 ${PANEL_FILE}.vcf.gz -Oz -o ${PANEL_FILE} - -# Keep only variants informations -bcftools view -G -m 2 -M 2 -v snps ${PANEL_FILE}.vcf.gz -Oz -o ${PANEL_FILE}.sites.vcf.gz -bcftools index -f ${PANEL_FILE}.sites.vcf.gz - -# Chunk the panel for easy parallelization -GLIMPSE_chunk \ - --input ${PANEL_FILE}.vcf.gz --region ${REGION} \ - --window-size 10000 --window-count 400 --buffer-size 5000 --buffer-count 30 \ - --output ${PANEL_FILE}.chunks.txt +# Download phased panel for chr21 - chr22 +for chr in chr21 chr22; do + + for ext in "" ".tbi"; do + wget -c \ + "http://ftp.1000genomes.ebi.ac.uk/vol1/ftp/data_collections/1000G_2504_high_coverage/working/20201028_3202_phased/CCDG_14151_B01_GRM_WGS_2020-08-05_$chr.filtered.shapeit2-duohmm-phased.vcf.gz${ext}" \ + -O "data/genomics/homo_sapiens/popgen/1000GP.${chr}.full.vcf.gz${ext}" + done + + PANEL_FILE=data/genomics/homo_sapiens/popgen/1000GP.$chr + REGION=$chr:16570000-16610000 + # Normalize, select the region, keep only biallelic SNPs, rename variants ID and compute allele frequency + bcftools norm -m +any ${PANEL_FILE}.full.vcf.gz \ + --regions ${REGION} --threads 4 -Ov | \ + bcftools view \ + -m 2 -M 2 -v snps --threads 4 -Ov | \ + bcftools annotate --threads 4 -Ov \ + --set-id '%CHROM\:%POS\:%REF\:%FIRST_ALT' | \ + vcffixup - | bgzip -c > ${PANEL_FILE}.vcf.gz + + # Index the panel file + bcftools index -f ${PANEL_FILE}.vcf.gz --threads 4 + + # Convert to hap legend samples file set + bcftools convert --haplegendsample 1000GP.$chr ${PANEL_FILE}.vcf.gz -Oz -o ${PANEL_FILE} + + # Convert to posfile + zcat ${PANEL_FILE}.legend.gz | awk 'NR>1 { + split($1,a,/[:_]/); + printf "%s\t%s\t%s\t%s\n", a[1], a[2], a[3], a[4] + }' > ${PANEL_FILE}.posfile + + # Keep only variants informations + bcftools view -G -m 2 -M 2 -v snps ${PANEL_FILE}.vcf.gz -Oz -o ${PANEL_FILE}.sites.vcf.gz + bcftools index -f ${PANEL_FILE}.sites.vcf.gz + + # Chunk the panel for easy parallelization + GLIMPSE_chunk \ + --input ${PANEL_FILE}.vcf.gz --region ${REGION} \ + --window-size 10000 --window-count 400 --buffer-size 5000 --buffer-count 30 \ + --output ${PANEL_FILE}.chunks.txt + + rm ${PANEL_FILE}.full.vcf.gz* +done ```