Genome sequencing in cytogenetics: Comparison of short‐read and linked‐read approaches for germline...
Genome sequencing in cytogenetics: Comparison of short‐read and linked‐read approaches for germline structural variant detection and characterization
About this item
Full title
Author / Creator
Uguen, Kévin , Jubin, Claire , Duffourd, Yannis , Bardel, Claire , Malan, Valérie , Dupont, Jean‐Michel , El Khattabi, Laila , Chatron, Nicolas , Vitobello, Antonio , Rollat‐Farnier, Pierre‐Antoine , Baulard, Céline , Lelorch, Marc , Leduc, Aurélie , Tisserant, Emilie , Tran Mau‐Them, Frédéric , Danjean, Vincent , Delepine, Marc , Till, Marianne , Meyer, Vincent , Lyonnet, Stanislas , Mosca‐Boidron, Anne‐laure , Thevenon, Julien , Faivre, Laurence , Thauvin‐Robinet, Christel , Schluth‐Bolard, Caroline , Boland, Anne , Olaso, Robert , Callier, Patrick , Romana, Serge , Deleuze, Jean‐François and Sanlaville, Damien
Publisher
United States: John Wiley & Sons, Inc
Journal title
Language
English
Formats
Publication information
Publisher
United States: John Wiley & Sons, Inc
Subjects
More information
Scope and Contents
Contents
Background
Structural variants (SVs) include copy number variants (CNVs) and apparently balanced chromosomal rearrangements (ABCRs). Genome sequencing (GS) enables SV detection at base‐pair resolution, but the use of short‐read sequencing is limited by repetitive sequences, and long‐read approaches are not yet validated for diagnosis. Recently,...
Alternative Titles
Full title
Genome sequencing in cytogenetics: Comparison of short‐read and linked‐read approaches for germline structural variant detection and characterization
Authors, Artists and Contributors
Author / Creator
Jubin, Claire
Duffourd, Yannis
Bardel, Claire
Malan, Valérie
Dupont, Jean‐Michel
El Khattabi, Laila
Chatron, Nicolas
Vitobello, Antonio
Rollat‐Farnier, Pierre‐Antoine
Baulard, Céline
Lelorch, Marc
Leduc, Aurélie
Tisserant, Emilie
Tran Mau‐Them, Frédéric
Danjean, Vincent
Delepine, Marc
Till, Marianne
Meyer, Vincent
Lyonnet, Stanislas
Mosca‐Boidron, Anne‐laure
Thevenon, Julien
Faivre, Laurence
Thauvin‐Robinet, Christel
Schluth‐Bolard, Caroline
Boland, Anne
Olaso, Robert
Callier, Patrick
Romana, Serge
Deleuze, Jean‐François
Sanlaville, Damien
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_2bc4ee64a0974d0d8733a52a9dd35fe4
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_2bc4ee64a0974d0d8733a52a9dd35fe4
Other Identifiers
ISSN
2324-9269
E-ISSN
2324-9269
DOI
10.1002/mgg3.1114
