Standardized phenotyping enhances Mendelian disease gene identification

Lisenka E. L. M. Vissers*, Joris A. Veltman

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

13 Citations (Web of Science)


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 languageEnglish
Pages (from-to)1222-1224
JournalNature Genetics
Issue number11
Publication statusPublished - Nov 2015

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