Algorithmic improvements for discovery of germline copy number variants in next-generation sequencin...
Algorithmic improvements for discovery of germline copy number variants in next-generation sequencing data
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Publisher
London: BioMed Central Ltd
Journal title
Language
English
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Publisher
London: BioMed Central Ltd
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Scope and Contents
Contents
Copy number variants (CNVs) play a significant role in human heredity and disease. However, sensitive and specific characterization of germline CNVs from NGS data has remained challenging, particularly for hybridization-capture data in which read counts are the primary source of copy number information. We describe two algorithmic adaptations that...
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Full title
Algorithmic improvements for discovery of germline copy number variants in next-generation sequencing data
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TN_cdi_doaj_primary_oai_doaj_org_article_b03b8719c020450ebabca87f8c42e7cf
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_b03b8719c020450ebabca87f8c42e7cf
Other Identifiers
ISSN
1471-2105
E-ISSN
1471-2105
DOI
10.1186/s12859-022-04820-w
