panelcn.MOPS: Copy-number detection in targeted NGS panel data for clinical diagnostics

Author:

Povysil Gundula1,Tzika Antigoni2,Vogt Julia2,Haunschmid Verena1,Messiaen Ludwine3,Zschocke Johannes2,Klambauer Günter1,Hochreiter Sepp1ORCID,Wimmer Katharina2

Affiliation:

1. Institute of Bioinformatics; Johannes Kepler University Linz; Linz Austria

2. Division of Human Genetics; Medical University Innsbruck; Innsbruck Austria

3. Medical Genomics Laboratory, Department of Genetics; University of Alabama at Birmingham; Birmingham Alabama

Funder

Institute of Bioinformatics, Johannes Kepler University Linz; Division of Human Genetics, Medical University Innsbruck

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference30 articles.

1. Genome structural variation discovery and genotyping;Alkan;Nature Review Genetics,2011

2. Cryptic and complex chromosomal aberrations in early-onset neuropsychiatric disorders;Brand;American Journal of Human Genetics,2014

3. Evaluation of statistical methods for normalization and differential expression in mRNA-Seq experiments;Bullard;BMC Bioinformatics,2010

4. Chang , W. Cheng , J. Allaire , J. J. Xie , Y. McPherson , J. 2016 Shiny: Web application framework for R https://CRAN.R-project.org/package=shiny

5. Detection of exon deletions and duplications of the mismatch repair genes in hereditary nonpolyposis colorectal cancer families using multiplex polymerase Chain Reaction of Short Fluorescent Fragments;Charbonnier;Cancer Research,2000

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