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ZENODO
Dataset . 2026
License: CC BY
Data sources: Datacite
ZENODO
Dataset . 2026
License: CC BY
Data sources: Datacite
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Analysis-ready whole-genome (WG) BED files for germline-somatic SNV overlap analyses

Authors: Tavares, Thais;

Analysis-ready whole-genome (WG) BED files for germline-somatic SNV overlap analyses

Abstract

Version 2 update Version 2 replaces the previously deposited HGDP rare-variant whole-genome BED file, which had not undergone linkage-disequilibrium pruning, with the LD-pruned dataset used in the final analyses. This version also adds the LD-pruned common and rare 1KGP BED files used for independent replication of the whole-genome results. The metadata were updated to document the distinct file schemas and the final analytical workflow. Version 1 is retained for provenance but should not be used to reproduce the final analyses. Dataset description These files contain autosomal biallelic single-nucleotide variants (SNVs) represented in the GRCh38 human genome assembly. The datasets were generated from the Human Genome Diversity Project (HGDP), the high-coverage 1000 Genomes Project (1KGP), ClinVar, and COSMIC for the investigation of exact-coordinate recurrence across germline and somatic SNV classes. HGDP served as the primary population reference panel, whereas the high-coverage 1KGP dataset was used as an independent replication panel. Linkage-disequilibrium pruning was applied to both population-based datasets before classification into common and rare SNVs. The primary whole-genome analyses compared HGDP common and rare SNVs with COSMIC somatic SNVs and were independently replicated using 1KGP common and rare SNVs. ClinVar whole-genome files are provided for data provenance but were not included in whole-genome enrichment tests because of their strong coding-region ascertainment. ClinVar variants were evaluated only in the MANE-defined coding-sequence analyses deposited separately. File schemas The HGDP, ClinVar, and COSMIC files contain six tab-delimited columns: chromosome; zero-based start coordinate; end coordinate; VEP consequence; reference allele; and alternate allele. The 1KGP files contain six tab-delimited columns: chromosome; zero-based start coordinate; end coordinate; source variant identifier in CHROM:POS:REF format; global alternate-allele frequency; and number of 1KGP superpopulations in which the alternate-allele frequency is at least 1%. The 1KGP files were generated for population-frequency classification and exact-coordinate overlap testing and were not annotated with VEP. Consequently, their fourth through sixth columns differ from those of the HGDP, ClinVar, and COSMIC files. File descriptions SNPs_WG.bed.gz: HGDP common SNVs. Autosomal biallelic SNVs with global allele frequency of at least 1% and allele frequency of at least 1% in two or more of the seven HGDP geographic regions, after linkage-disequilibrium pruning. rares_WG.bed.gz: HGDP rare SNVs. Autosomal biallelic SNVs with global allele frequency below 1%, after linkage-disequilibrium pruning. 1KGP_common_WG.bed.gz: 1KGP common SNVs. Autosomal biallelic SNVs with global allele frequency of at least 1% and allele frequency of at least 1% in two or more of the five official 1KGP superpopulations, after linkage-disequilibrium pruning. 1KGP_rare_WG.bed.gz: 1KGP rare SNVs. Autosomal biallelic SNVs with global allele frequency below 1%, after linkage-disequilibrium pruning. patho_WG.bed.gz: ClinVar SNVs classified as pathogenic or likely pathogenic and restricted to records with a review status of two to four stars. This file was not included in the whole-genome enrichment analyses. benign_WG.bed.gz: ClinVar SNVs classified as benign or likely benign. This file was not included in the whole-genome enrichment analyses. cosmic_WG.bed.gz: Somatic SNVs obtained from COSMIC and deduplicated by chromosome, genomic position, reference allele, and alternate allele. These analysis-ready datasets support reproduction of the whole-genome exact-coordinate overlap analyses and independent replication across the HGDP and 1KGP population reference panels.

Related Organizations
Keywords

Disease Hotspot, Point Mutation

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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
0
Average
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