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NanoVar: Accurate Characterization of Patients' Genomic Structural Variants Using Low-Depth Nanopore...

NanoVar: Accurate Characterization of Patients' Genomic Structural Variants Using Low-Depth Nanopore...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2241827443

NanoVar: Accurate Characterization of Patients' Genomic Structural Variants Using Low-Depth Nanopore Sequencing

About this item

Full title

NanoVar: Accurate Characterization of Patients' Genomic Structural Variants Using Low-Depth Nanopore Sequencing

Publisher

Cold Spring Harbor: Cold Spring Harbor Laboratory Press

Journal title

bioRxiv, 2019-06

Language

English

Formats

Publication information

Publisher

Cold Spring Harbor: Cold Spring Harbor Laboratory Press

Subjects

More information

Scope and Contents

Contents

Despite the increasing relevance of structural variants (SV) in the development of many human diseases, progress in novel pathological SV discovery remains impeded, partly due to the challenges of accurate and routine SV characterization in patients. The recent advent of third-generation sequencing (3GS) technologies brings promise for better chara...

Alternative Titles

Full title

NanoVar: Accurate Characterization of Patients' Genomic Structural Variants Using Low-Depth Nanopore Sequencing

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_proquest_journals_2241827443

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2241827443

Other Identifiers

E-ISSN

2692-8205

DOI

10.1101/662940