SurVIndel2: improving copy number variant calling from next-generation sequencing using hidden split...
SurVIndel2: improving copy number variant calling from next-generation sequencing using hidden split reads
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Publisher
London: Nature Publishing Group UK
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English
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London: Nature Publishing Group UK
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Deletions and tandem duplications (commonly called CNVs) represent the majority of structural variations in a human genome. They can be identified using short reads, but because they frequently occur in repetitive regions, existing methods fail to detect most of them. This is because CNVs in repetitive regions often do not produce the evidence need...
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SurVIndel2: improving copy number variant calling from next-generation sequencing using hidden split reads
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TN_cdi_doaj_primary_oai_doaj_org_article_13a792885ae24f3184e46d22f7419c22
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_13a792885ae24f3184e46d22f7419c22
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ISSN
2041-1723
E-ISSN
2041-1723
DOI
10.1038/s41467-024-53087-7
