Integrating Functional Analysis in the Next-Generation Sequencing Diagnostic Pipeline of RASopathies
Integrating Functional Analysis in the Next-Generation Sequencing Diagnostic Pipeline of RASopathies
About this item
Full title
Author / Creator
Leung, Gordon K. C. , Luk, H. M. , Tang, Vincent H. M. , Gao, W. W. , Mak, Christopher C. Y. , Yu, Mullin H. C. , Wong, W. L. , Chu, Yoyo W. Y. , Yang, W. L. , Wong, Wilfred H. S. , Ma, Alvin C. H. , Leung, Anskar Y. H. , Jin, D. Y. , Chan, Kelvin Y. K. , Allanson, Judith , Lo, Ivan F. M. and Chung, Brian H. Y.
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
Formats
Publication information
Publisher
London: Nature Publishing Group UK
Subjects
More information
Scope and Contents
Contents
RASopathies are a group of heterogeneous conditions caused by germline mutations in RAS/MAPK signalling pathway genes. With next-generation sequencing (NGS), sequencing capacity is no longer a limitation to molecular diagnosis. Instead, the rising number of variants of unknown significance (VUSs) poses challenges to clinical interpretation and gene...
Alternative Titles
Full title
Integrating Functional Analysis in the Next-Generation Sequencing Diagnostic Pipeline of RASopathies
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_e980db126d344af19a9dfb09f4501b49
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_e980db126d344af19a9dfb09f4501b49
Other Identifiers
ISSN
2045-2322
E-ISSN
2045-2322
DOI
10.1038/s41598-018-20894-0
