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Comprehensive Structural Variant Detection: From Mosaic to Population-Level

Comprehensive Structural Variant Detection: From Mosaic to Population-Level

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2647049995

Comprehensive Structural Variant Detection: From Mosaic to Population-Level

About this item

Full title

Comprehensive Structural Variant Detection: From Mosaic to Population-Level

Publisher

Cold Spring Harbor: Cold Spring Harbor Laboratory Press

Journal title

bioRxiv, 2022-04

Language

English

Formats

Publication information

Publisher

Cold Spring Harbor: Cold Spring Harbor Laboratory Press

More information

Scope and Contents

Contents

Long-read Structural Variation (SV) calling remains a challenging but highly accurate way to identify complex genomic rearrangements. Here, we present Sniffles2, which is faster and more accurate than state-of-the-art SV caller across different coverages, sequencing technologies, and SV types. Furthermore, Sniffles2 solves the problem of family to...

Alternative Titles

Full title

Comprehensive Structural Variant Detection: From Mosaic to Population-Level

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_proquest_journals_2647049995

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2647049995

Other Identifiers

E-ISSN

2692-8205

DOI

10.1101/2022.04.04.487055