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updated README
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JasonCLEI committed Oct 11, 2024
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Expand Up @@ -400,12 +400,12 @@ Particularly, if the `--panel_of_normals` option is not specified, the four defa
In addition, we recommend using `--panel_of_normals_require_allele_matching` option that takes comma separated booleans to indicate whether to require allele matching for each of the PoNs given in `--panel_of_normals`. By default, allele matching is enabled when using germline variants sources (e.g., gnomAD, dbSNP) for non-somatic tagging, and is disabled when using panels (e.g., 1000G PoN, CoLoRSdb).
| Default PoNs | URL | Source | Source URL | Last visited | Total #Variants | Filters | #Variants used for tagging | Remaining Columns in the input |
|:------------:|:------------------------------------------------------------------------------------------------------------:|:------:|:----------------------------------------------------------------------------------------------------------------:|:---------------------------:|:---------------:|:----------------------:|:--------------------------:|:--------------------------------:|
| PoN 1 | http://www.bio8.cs.hku.hk/clairs-to/databases/gnomad.r2.1.af-ge-0.001.sites.vcf.gz | GATK gnomAD | https://storage.googleapis.com/gatk-best-practices/somatic-hg38/af-only-gnomad.hg38.vcf.gz | July 10, 2023 PM10∶34∶07 | 268,225,276 | Sites with AF ≥ 0.001 | 35,551,905 | #CHROM POS ID REF ALT |
| PoN 2 | http://www.bio8.cs.hku.hk/clairs-to/databases/dbsnp.b138.non-somatic.sites.vcf.gz | GATK dbSNP | https://storage.googleapis.com/genomics-public-data/resources/broad/hg38/v0/Homo_sapiens_assembly38.dbsnp138.vcf | July 10, 2023 PM10∶42∶22 | 60,691,395 | Non-Somatic sites | 60,683,019 | #CHROM POS ID REF ALT |
| PoN 3 | http://www.bio8.cs.hku.hk/clairs-to/databases/1000g-pon.sites.vcf.gz | GATK 1000G PoN | https://storage.googleapis.com/gatk-best-practices/somatic-hg38/1000g_pon.hg38.vcf.gz | July 10, 2023 PM10∶31∶32 | 2,609,566 | All sites | 2,609,566 | #CHROM POS ID REF ALT |
| PoN 4 | http://www.bio8.cs.hku.hk/clairs-to/databases/CoLoRSdb.GRCh38.v1.1.0.deepvariant.glnexus.af-ge-0.001.vcf.gz | GATK 1000G PoN | https://zenodo.org/records/13145123/files/CoLoRSdb.GRCh38.v1.1.0.deepvariant.glnexus.vcf.gz | August 21, 2024 PM10∶36∶10 | 49,550,902 | Sites with AF ≥ 0.001 | 41,175,834 | #CHROM POS ID REF ALT |
| Default PoNs | URL | Source | Source URL | Last visited | Total #Variants | Filters | #Variants used for tagging | Remaining Columns in the input |
|:------------:|:------------------------------------------------------------------------------------------------------------:|:------------------------------------------------------:|:----------------------------------------------------------------------------------------------------------------:|:---------------------------:|:---------------:|:----------------------:|:--------------------------:|:--------------------------------:|
| PoN 1 | http://www.bio8.cs.hku.hk/clairs-to/databases/gnomad.r2.1.af-ge-0.001.sites.vcf.gz | GATK gnomAD | https://storage.googleapis.com/gatk-best-practices/somatic-hg38/af-only-gnomad.hg38.vcf.gz | July 10, 2023 PM10∶34∶07 | 268,225,276 | Sites with AF ≥ 0.001 | 35,551,905 | #CHROM POS ID REF ALT |
| PoN 2 | http://www.bio8.cs.hku.hk/clairs-to/databases/dbsnp.b138.non-somatic.sites.vcf.gz | GATK dbSNP | https://storage.googleapis.com/genomics-public-data/resources/broad/hg38/v0/Homo_sapiens_assembly38.dbsnp138.vcf | July 10, 2023 PM10∶42∶22 | 60,691,395 | Non-Somatic sites | 60,683,019 | #CHROM POS ID REF ALT |
| PoN 3 | http://www.bio8.cs.hku.hk/clairs-to/databases/1000g-pon.sites.vcf.gz | GATK 1000G PoN | https://storage.googleapis.com/gatk-best-practices/somatic-hg38/1000g_pon.hg38.vcf.gz | July 10, 2023 PM10∶31∶32 | 2,609,566 | All sites | 2,609,566 | #CHROM POS ID REF ALT |
| PoN 4 | http://www.bio8.cs.hku.hk/clairs-to/databases/CoLoRSdb.GRCh38.v1.1.0.deepvariant.glnexus.af-ge-0.001.vcf.gz | Consortium of Long Read Sequencing Database (CoLoRSdb) | https://zenodo.org/records/13145123/files/CoLoRSdb.GRCh38.v1.1.0.deepvariant.glnexus.vcf.gz | August 21, 2024 PM10∶36∶10 | 49,550,902 | Sites with AF ≥ 0.001 | 41,175,834 | #CHROM POS ID REF ALT |
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