Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families.

ABSTRACT: Discovery of most autosomal recessive disease-associated genes has involved analysis of large, often consanguineous multiplex families or small cohorts of unrelated individuals with a well-defined clinical condition. Discovery of new dominant causes of rare, genetically heterogeneous developmental disorders has been revolutionized by exome analysis of large cohorts of phenotypically diverse parent-offspring trios. Here we analyzed 4,125 families with diverse, rare and genetically heterogeneous developmental disorders and identified four new autosomal recessive disorders. These four disorders were identified by integrating Mendelian filtering (selecting probands with rare, biallelic and putatively damaging variants in the same gene) with statistical assessments of (i) the likelihood of samp

SUBMITTER: Akawi N 

PROVIDER: S-EPMC5988033 | biostudies-literature | 2015 Nov

REPOSITORIES: biostudies-literature