Parallel detection of single nucleotide variants and copy number variants with exome analysis: Validation in a cohort of 700 undiagnosed patients
Author:
Affiliation:
1. Center for Medical Genetics Keio University School of Medicine Tokyo Japan
2. Department of Pediatrics Keio University School of Medicine Tokyo Japan
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61822
Reference11 articles.
1. CNVnator: An approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing
2. Japan’s initiative on rare and undiagnosed diseases (IRUD): towards an end to the diagnostic odyssey
3. Understanding diagnostic tests 3: receiver operating characteristic curves
4. Enhanced copy number variants detection from whole‐exome sequencing data using EXCAVATOR2;D'Aurizio R.;Nucleic Acids Research,2016
5. Interpretation of Array Comparative Genome Hybridization Data: A Major Challenge
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