WisecondorX: improved copy number detection for routine shallow whole-genome sequencing

Author:

Raman Lennart12,Dheedene Annelies2,De Smet Matthias2,Van Dorpe Jo1,Menten Björn2

Affiliation:

1. Department of Pathology, Ghent University, Ghent University Hospital, Ghent, Belgium

2. Center for Medical Genetics Ghent, Ghent University, Ghent University Hospital, Ghent, Belgium

Funder

Ghent University

Publisher

Oxford University Press (OUP)

Subject

Genetics

Reference32 articles.

1. Low-pass whole-genome sequencing in clinical cytogenetics: a validated approach;Dong;Genet. Med. Off. J. Am. Coll. Med. Genet.,2016

2. Copy-number variants detection by low-pass whole-genome sequencing;Dong;Curr. Protoc. Hum. Genet.,2017

3. Exome sequencing and whole genome sequencing for the detection of copy number variation;Hehir-Kwa;Expert Rev. Mol. Diagn.,2015

4. A comprehensive workflow for read depth-based identification of Copy-Number variation from whole-genome sequence data;Trost;Am. J. Hum. Genet.,2018

5. Implementation of non‐invasive prenatal testing by semiconductor sequencing in a genetic laboratory;Dheedene;Prenat. Diagn.,2016

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