Clinical Validation of Copy Number Variant Detection from Targeted Next-Generation Sequencing Panels-Reference-Cited by-同舟云学术

Clinical Validation of Copy Number Variant Detection from Targeted Next-Generation Sequencing Panels

Published:2017-11 Issue:6 Volume:19 Page:905-920
ISSN:1525-1578
Container-title:The Journal of Molecular Diagnostics
language:en
Short-container-title:The Journal of Molecular Diagnostics

Author:

Kerkhof Jennifer,Schenkel Laila C.,Reilly Jack^ORCID,McRobbie Sheri,Aref-Eshghi Erfan,Stuart Alan,Rupar C. Anthony,Adams Paul,Hegele Robert A.,Lin Hanxin,Rodenhiser David,Knoll Joan,Ainsworth Peter J.^ORCID,Sadikovic Bekim

Publisher

Elsevier BV

Subject

Molecular Medicine,Pathology and Forensic Medicine

Reference28 articles.

1. Detection of prostate cancer related copy number variations with SNP genotyping array;Wang;Eur Rev Med Pharmacol Sci,2013

2. Copy number variations and cancer;Shlien;Genome Med,2009

3. Copy number changes of clinically actionable genes in melanoma, non-small cell lung cancer and colorectal cancer-A survey across 822 routine diagnostic cases;Pfarr;Genes Chromosomes Cancer,2016

4. Copy number variations in the survival motor neuron genes: implications for spinal muscular atrophy and other neurodegenerative diseases;Butchbach;Front Mol Biosci,2016

5. Copy number variations in neurodevelopmental disorders;Grayton;Prog Neurobiol,2012

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