Comprehensive de novo mutation discovery with HiFi long-read sequencing
Comprehensive de novo mutation discovery with HiFi long-read sequencing
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Publisher
England: BioMed Central Ltd
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Language
English
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Publisher
England: BioMed Central Ltd
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Long-read sequencing (LRS) techniques have been very successful in identifying structural variants (SVs). However, the high error rate of LRS made the detection of small variants (substitutions and short indels < 20 bp) more challenging. The introduction of PacBio HiFi sequencing makes LRS also suited for detecting small variation. Here we evaluate...
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Full title
Comprehensive de novo mutation discovery with HiFi long-read sequencing
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TN_cdi_doaj_primary_oai_doaj_org_article_590b4d540eb5411bb3b8f2bd4ce985c0
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_590b4d540eb5411bb3b8f2bd4ce985c0
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ISSN
1756-994X
E-ISSN
1756-994X
DOI
10.1186/s13073-023-01183-6
