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Learning What a Good Structural Variant Looks Like

Learning What a Good Structural Variant Looks Like

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2405930825

Learning What a Good Structural Variant Looks Like

About this item

Full title

Learning What a Good Structural Variant Looks Like

Publisher

Cold Spring Harbor: Cold Spring Harbor Laboratory Press

Journal title

bioRxiv, 2020-05

Language

English

Formats

Publication information

Publisher

Cold Spring Harbor: Cold Spring Harbor Laboratory Press

More information

Scope and Contents

Contents

Structural variations (SVs) are an important class of genetic mutations, yet SV detectors still suffer from high false-positive rates. In many cases, humans can quickly determine whether a putative SV is real by merely looking at a visualization of the SV's coverage profile. To that end, we developed Samplot-ML, a convolutional neural network(CNN)t...

Alternative Titles

Full title

Learning What a Good Structural Variant Looks Like

Authors, Artists and Contributors

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_proquest_journals_2405930825

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2405930825

Other Identifiers

E-ISSN

2692-8205

DOI

10.1101/2020.05.22.111260