PopDel identifies medium-size deletions simultaneously in tens of thousands of genomes
PopDel identifies medium-size deletions simultaneously in tens of thousands of genomes
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Publisher
London: Nature Publishing Group UK
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Language
English
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London: Nature Publishing Group UK
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Thousands of genomic structural variants (SVs) segregate in the human population and can impact phenotypic traits and diseases. Their identification in whole-genome sequence data of large cohorts is a major computational challenge. Most current approaches identify SVs in single genomes and afterwards merge the identified variants into a joint call...
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Full title
PopDel identifies medium-size deletions simultaneously in tens of thousands of genomes
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TN_cdi_doaj_primary_oai_doaj_org_article_7e11f7a0fa074181bed60edcd226efaa
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_7e11f7a0fa074181bed60edcd226efaa
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ISSN
2041-1723
E-ISSN
2041-1723
DOI
10.1038/s41467-020-20850-5
