c7b6da0a433f53fdf3c4137a67598d099d9ce1a5 max Wed Jan 14 10:52:53 2026 -0800 adding SFARI SPARK to varFreqs supertrack, refs #36642 diff --git src/hg/makeDb/doc/hg38/varFreqs.txt src/hg/makeDb/doc/hg38/varFreqs.txt index 9d8d734bfcf..31d7caf0c41 100644 --- src/hg/makeDb/doc/hg38/varFreqs.txt +++ src/hg/makeDb/doc/hg38/varFreqs.txt @@ -68,15 +68,28 @@ tabix -p vcf kova.v7.vcf.gz # NPM Singapore cd /hive/data/genomes/hg38/bed/varFreqs/npm/ # downloaded data manually from chorus website, https://chorus.grids-platform.io/vcfdl bcftools concat --threads 10 -Oz -o SG10K_Health_r5.3.2.sites.vcf.bgz SG10K_Health_r5.3.2.sites.chr{1..22}.vcf.bgz SG10K_Health_r5.3.2.sites.chrX.vcf.bgz SG10K_Health_r5.3.2.sites.chrY.vcf.bgz tabiv -p vcf SG10K_Health_r5.3.2.sites.vcf.bgz # Saudi 300 genomes cd /hive/data/genomes/hg38/bed/varFreqs/saudi wget https://figshare.com/ndownloader/files/51297884 -O 51297884.tsv.gz python3 ~/kent/src/hg/makeDb/scripts/saudiToVcf.py bgzip saudi.vcf tabix -p vcf saudi.vcf.gz +# SFARI SPARK +cd /hive/data/genomes/hg38/bed/varFreqs/sparkExomes/ +# used globus to download into vcf/ +sh ~/kent/src/hg/makeDb/scripts/sparkMergeVcfAddCounts.sh vcf/SPARK.iWES_v3.2024_08.deepvariant 8 +bcftools norm -m- SPARK.iWES_v3.2024_08.deepvariant.sites.vcf.gz -Oz > SPARK.iWES_v3.2024_08.deepvariant.norm.vcf.gz && tabix -p vcf SPARK.iWES_v3.2024_08.deepvariant.norm.vcf.gz + +cd /hive/data/genomes/hg38/bed/varFreqs/sparkWgs/ +# used globus to download into vcf/ +sh ~/kent/src/hg/makeDb/scripts/sparkMergeVcfAddCounts.sh vcf/wgs_12519_genome.deepvariant 8 +bcftools norm -m- wgs_12519_genome.deepvariant.sites.vcf.gz -Oz > wgs_12519_genome.deepvariant.norm.vcf.gz +tabix -p vcf wgs_12519_genome.deepvariant.norm.vcf.gz + +