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

doi:10.1038/ng.3410

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Article

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

Nature genetics - 1 Nov 2015

Akawi Nadia, McRae Jeremy, Ansari Morad, Balasubramanian Meena, Blyth Moira, Brady Angela F, Clayton Stephen, Cole Trevor, Deshpande Charu, Fitzgerald Tomas W, Foulds Nicola, Francis Richard, Gabriel George, Gerety Sebastian S, Goodship Judith, Hobson Emma, Jones Wendy D, Joss Shelagh, King Daniel, Klena Nikolai, Kumar Ajith, Lees Melissa, Lelliott Chris, Lord Jenny, McMullan Dominic, O'Regan Mary, Osio Deborah, Piombo Virginia, Prigmore Elena, Rajan Diana, Rosser Elisabeth, Sifrim Alejandro, Smith Audrey, Swaminathan Ganesh J, Turnpenny Peter, Whitworth James, Wright Caroline F, Firth Helen V, Barrett Jeffrey C, Lo Cecilia W, FitzPatrick David R, Hurles Matthew E

Abstract excerpt

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...

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PMID: 26437029
DOI: 10.1038/ng.3410
PMCID: PMC5988033

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