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Benchmarking small variant detection with ONT reveals high performance in challenging regions

Benchmarking small variant detection with ONT reveals high performance in challenging regions

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2507824298

Benchmarking small variant detection with ONT reveals high performance in challenging regions

About this item

Full title

Benchmarking small variant detection with ONT reveals high performance in challenging regions

Publisher

Cold Spring Harbor: Cold Spring Harbor Laboratory Press

Journal title

bioRxiv, 2020-10

Language

English

Formats

Publication information

Publisher

Cold Spring Harbor: Cold Spring Harbor Laboratory Press

More information

Scope and Contents

Contents

Abstract Background The development of long read sequencing (LRS) has led to greater access to the human genome. LRS produces long read lengths at the cost of high error rates and has shown to be more useful in calling structural variants than short read sequencing (SRS) data. In this paper we evaluate how to use LRS data from Oxford Nanopore Techn...

Alternative Titles

Full title

Benchmarking small variant detection with ONT reveals high performance in challenging regions

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_proquest_journals_2507824298

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2507824298

Other Identifiers

E-ISSN

2692-8205

DOI

10.1101/2020.10.22.350009