Mapping and characterization of structural variation in 17,795 deeply sequenced human genomes
Mapping and characterization of structural variation in 17,795 deeply sequenced human genomes
About this item
Full title
Author / Creator
Abel, Haley J , Larson, David E , Chiang, Colby , Das, Indraniel , Kanchi, Krishna L , Layer, Ryan M , Neale, Benjamin M , Salerno, William J , Reeves, Catherine , Buyske, Steven , Nhgri Centers For Common Disease Genomics , Matise, Tara C , Muzny, Donna M , Zody, Michael C , Lander, Eric S , Dutcher, Susan K , Stitziel, Nathan O and Hall, Ira M
Publisher
Cold Spring Harbor: Cold Spring Harbor Laboratory Press
Journal title
Language
English
Formats
Publication information
Publisher
Cold Spring Harbor: Cold Spring Harbor Laboratory Press
Subjects
More information
Scope and Contents
Contents
A key goal of whole genome sequencing (WGS) for human genetics studies is to interrogate all forms of variation, including single nucleotide variants (SNV), small insertion/deletion (indel) variants and structural variants (SV). However, tools and resources for the study of SV have lagged behind those for smaller variants. Here, we used a cloud-bas...
Alternative Titles
Full title
Mapping and characterization of structural variation in 17,795 deeply sequenced human genomes
Authors, Artists and Contributors
Author / Creator
Larson, David E
Chiang, Colby
Das, Indraniel
Kanchi, Krishna L
Layer, Ryan M
Neale, Benjamin M
Salerno, William J
Reeves, Catherine
Buyske, Steven
Nhgri Centers For Common Disease Genomics
Matise, Tara C
Muzny, Donna M
Zody, Michael C
Lander, Eric S
Dutcher, Susan K
Stitziel, Nathan O
Hall, Ira M
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_journals_2161850424
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2161850424
Other Identifiers
E-ISSN
2692-8205
DOI
10.1101/508515
How to access this item
https://www.proquest.com/docview/2161850424?pq-origsite=primo&accountid=13902
