A comprehensive strategy for exome-based preconception carrier screening
A comprehensive strategy for exome-based preconception carrier screening
About this item
Full title
A comprehensive strategy for exome-based preconception carrier screening
Author / Creator
Publisher
United States
Journal title
Genetics in medicine, 2017-05, Vol.19 (5), p.583
Language
English
Formats
Publication information
Publisher
United States
Subjects
More information
Scope and Contents
Contents
Whole-exome sequencing (WES) provides the possibility of genome-wide preconception carrier screening (PCS). Here, we propose a filter strategy to rapidly identify the majority of relevant pathogenic mutations.
Our strategy was developed using WES data from eight consanguineous and five fictive nonconsanguineous couples and was subsequently appli...
Alternative Titles
Full title
A comprehensive strategy for exome-based preconception carrier screening
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmed_primary_28492530
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmed_primary_28492530
Other Identifiers
E-ISSN
1530-0366
DOI
10.1038/gim.2016.153
