Add to ORKGtool to improve the clinical utility of computational CNV prediction from exome sequencing dat
Background Targeted next-generation sequencing (NGS) is increasingly being adopted ...
Purpose: To develop and validate VisCap, a software program targeted to clinical laboratories for in...
Copy number variants (CNVs) account for both variations among normal individuals and pathogenic vari...
Copy number variants (CNVs) are a class of structural variants containing deletions and duplications...
Statistical methods used to calculate CNV quality scores. Table S2. CNVQ ratio for common TP CNVs. T...
Background: One of the most important somatic aberrations, copy number variations (CNVs) in tumor ge...
sequencing provide insigh ui ific n structural events [3]. As an important form of genetic vari-atio...
are Rare): methods to facilitate the analysis of iants from massively publication identifying XRCC2 ...
probes in the CNV and the size of the CNV, with the highest positive predicted rates in CNVs of at l...
<p>(A) The access to various analytic tools for numerous functional annotation modules. (B) The web ...
peer reviewedPathogenic copy number variants (CNVs) can cause a heterogeneous spectrum of rare and s...
Copy number variations (CNVs) play an important role in many types of cancer. With the rapid develop...
<p>The total number of cases in Cooper et al <a href="http://www.plosone.org/article/info:doi/10.137...
<p>The annotation results for the top ten novel CNVs from microsatellite stable hereditary nonpolypo...
Background: While exome and targeted next-generation DNA sequencing are primarily used for detecting...
Background Targeted next-generation sequencing (NGS) is increasingly being adopted ...
Purpose: To develop and validate VisCap, a software program targeted to clinical laboratories for in...
Copy number variants (CNVs) account for both variations among normal individuals and pathogenic vari...
Copy number variants (CNVs) are a class of structural variants containing deletions and duplications...
Statistical methods used to calculate CNV quality scores. Table S2. CNVQ ratio for common TP CNVs. T...
Background: One of the most important somatic aberrations, copy number variations (CNVs) in tumor ge...
sequencing provide insigh ui ific n structural events [3]. As an important form of genetic vari-atio...
are Rare): methods to facilitate the analysis of iants from massively publication identifying XRCC2 ...
probes in the CNV and the size of the CNV, with the highest positive predicted rates in CNVs of at l...
<p>(A) The access to various analytic tools for numerous functional annotation modules. (B) The web ...
peer reviewedPathogenic copy number variants (CNVs) can cause a heterogeneous spectrum of rare and s...
Copy number variations (CNVs) play an important role in many types of cancer. With the rapid develop...
<p>The total number of cases in Cooper et al <a href="http://www.plosone.org/article/info:doi/10.137...
<p>The annotation results for the top ten novel CNVs from microsatellite stable hereditary nonpolypo...
Background: While exome and targeted next-generation DNA sequencing are primarily used for detecting...
Background Targeted next-generation sequencing (NGS) is increasingly being adopted ...
Purpose: To develop and validate VisCap, a software program targeted to clinical laboratories for in...
Copy number variants (CNVs) account for both variations among normal individuals and pathogenic vari...