Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios
Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios
About this item
Full title
Author / Creator
Zhu, Xiaolin , Petrovski, Slavé , Xie, Pingxing , Ruzzo, Elizabeth K. , Lu, Yi-Fan , McSweeney, K. Melodi , Ben-Zeev, Bruria , Nissenkorn, Andreea , Anikster, Yair , Oz-Levi, Danit , Dhindsa, Ryan S. , Hitomi, Yuki , Schoch, Kelly , Spillmann, Rebecca C. , Heimer, Gali , Marek-Yagel, Dina , Tzadok, Michal , Han, Yujun , Worley, Gordon , Goldstein, Jennifer , Jiang, Yong-Hui , Lancet, Doron , Pras, Elon , Shashi, Vandana , McHale, Duncan , Need, Anna C. and Goldstein, David B.
Publisher
New York: Nature Publishing Group US
Journal title
Language
English
Formats
Publication information
Publisher
New York: Nature Publishing Group US
Subjects
More information
Scope and Contents
Contents
Purpose:
Despite the recognized clinical value of exome-based diagnostics, methods for comprehensive genomic interpretation remain immature. Diagnoses are based on known or presumed pathogenic variants in genes already associated with a similar phenotype. Here, we extend this paradigm by evaluating novel bioinformatics approaches to aid identifi...
Alternative Titles
Full title
Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios
Authors, Artists and Contributors
Author / Creator
Petrovski, Slavé
Xie, Pingxing
Ruzzo, Elizabeth K.
Lu, Yi-Fan
McSweeney, K. Melodi
Ben-Zeev, Bruria
Nissenkorn, Andreea
Anikster, Yair
Oz-Levi, Danit
Dhindsa, Ryan S.
Hitomi, Yuki
Schoch, Kelly
Spillmann, Rebecca C.
Heimer, Gali
Marek-Yagel, Dina
Tzadok, Michal
Han, Yujun
Worley, Gordon
Goldstein, Jennifer
Jiang, Yong-Hui
Lancet, Doron
Pras, Elon
Shashi, Vandana
McHale, Duncan
Need, Anna C.
Goldstein, David B.
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4791490
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4791490
Other Identifiers
ISSN
1098-3600
E-ISSN
1530-0366
DOI
10.1038/gim.2014.191
