Abstract
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.
Original language | English |
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Pages (from-to) | 1222-1224 |
Journal | Nature Genetics |
Volume | 47 |
Issue number | 11 |
DOIs | |
Publication status | Published - Nov 2015 |