ClinVar data parsing.
Wellcome Open Res
| Authors | |
| Abstract | This software repository provides a pipeline for converting raw ClinVar data files into analysis-friendly tab-delimited tables, and also provides these tables for the most recent ClinVar release. Separate tables are generated for genome builds GRCh37 and GRCh38 as well as for mono-allelic variants and complex multi-allelic variants. Additionally, the tables are augmented with allele frequencies from the ExAC and gnomAD datasets as these are often consulted when analyzing ClinVar variants. Overall, this work provides ClinVar data in a format that is easier to work with and can be directly loaded into a variety of popular analysis tools such as R, python pandas, and SQL databases. |
| Year of Publication | 2017
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| Journal | Wellcome Open Res
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| Volume | 2
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| Pages | 33
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| Date Published | 2017
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| ISSN | 2398-502X
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| DOI | 10.12688/wellcomeopenres.11640.1
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| PubMed ID | 28630944
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| PubMed Central ID | PMC5473414
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| Links | |
| Grant list | 107469/Z/15/Z / Wellcome Trust / United Kingdom
U54 DK105566 / DK / NIDDK NIH HHS / United States
R01 GM104371 / GM / NIGMS NIH HHS / United States
F31 AI122592 / AI / NIAID NIH HHS / United States
T32 GM007748 / GM / NIGMS NIH HHS / United States
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