Standardized phenotyping enhances Mendelian disease gene identification.
Whole-exome sequencing has revolutionized the identification of genes with dominant disease-associated variants for rare clinically and genetically heterogeneous disorders, but the identification of genes with recessive disease-associated variants has been less successful. A new study now provides a framework integrating Mendelian variant filtering with statistical assessments of patients' genotypes and phenotypes, thereby catalyzing the discovery of novel mutations associated with recessive disease.
Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, the Netherlands.
Lisenka E L M
LE
Vissers
Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, the Netherlands.|Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, the Netherlands.
Joris A
JA
Veltman
D002658:Developmental Disabilities / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D056726:Genetic Association Studies / Q000379:methods*; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D008297:Male