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Discovery of mutations for Mendelian disorders

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Abstract

Mendelian mutations are the most medically actionable variants in the human genome and have always played a central role in its functional annotation. Despite the relative ease with which Mendelian mutations are identified compared to other classes of variants, the pace of their discovery has until recently been slow. However, recent technological advances in genomic sequencing have made the prospect of identifying all genes that can harbor Mendelian mutations an achievable near-term goal. The many lessons learned from previous discoveries of Mendelian mutations should inform future studies as I will discuss in this review. Also discussed are some of the challenges that will gain more prominence as we approach the last phase of the effort to map all Mendelian genes.

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Acknowledgments

I thank Ranad Shaheen and Hanan E Shamseldin for their critical review of this manuscript. FSA was supported by a grant from King Salman Center for Disability Research and a grant from King Abdulaziz City for Science and Technology (13-BIO1113-20).

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  1. Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia

    Fowzan S. Alkuraya

  2. Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia

    Fowzan S. Alkuraya

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Correspondence to Fowzan S. Alkuraya.

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Alkuraya, F.S. Discovery of mutations for Mendelian disorders. Hum Genet 135, 615–623 (2016). https://doi.org/10.1007/s00439-016-1664-8

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