Evaluation of the performance of copy number variant prediction tools for the detection of deletions from whole genome sequencing data
Author:
Publisher
Elsevier BV
Subject
Health Informatics,Computer Science Applications
Reference37 articles.
1. Structural variants: changing the landscape of chromosomes and design of disease studies;Feuk;Hum. Mol. Genet.,2006
2. Etude des chromosomes somatiques de neuf enfants mongoliens;Lejeune;Comptes rendus l’Académie des Sci.,1959
3. An integrated map of structural variation in 2504 human genomes;Sudmant;Nature,2015
4. A high-resolution survey of deletion polymorphism in the human genome;Conrad;Nat. Genet.,2006
5. A map of human genome variation from population-scale sequencing;Durbin;Nature,2010
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