Genes, Mutations, and Human Inherited Disease at the Dawn of the Age of Personalized Genomics
David Neil Cooper,Jian-Min Chen,Edward V. Ball,Katy Howells,Matthew Mort,Andrew David Phillips,Nadia Chuzhanova,Michael Krawczak,Hildegard Kehrer-Sawatzki,Peter D. Stenson +9 more
TLDR
A change in focus toward screening functional genomic elements as opposed to genes sensu stricto will be required if the authors are to capitalize fully on recent technical and conceptual advances and identify new types of disease‐associated mutation within noncoding regions remote from the genes whose function they disrupt.Abstract:
The number of reported germline mutations in human nuclear genes, either underlying or associated with inherited disease, has now exceeded 100,000 in more than 3,700 different genes. The availability of these data has both revolutionized the study of the morbid anatomy of the human genome and facilitated “personalized genomics.” With ∼300 new “inherited disease genes” (and ∼10,000 new mutations) being identified annually, it is pertinent to ask how many “inherited disease genes” there are in the human genome, how many mutations reside within them, and where such lesions are likely to be located? To address these questions, it is necessary not only to reconsider how we define human genes but also to explore notions of gene “essentiality” and “dispensability.” Answers to these questions are now emerging from recent novel insights into genome structure and function and through complete genome sequence information derived from multiple individual human genomes. However, a change in focus toward screening functional genomic elements as opposed to genes sensu stricto will be required if we are to capitalize fully on recent technical and conceptual advances and identify new types of disease-associated mutation within noncoding regions remote from the genes whose function they disrupt.read more
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The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine
Peter D. Stenson,Matthew Mort,Edward V. Ball,Katy Shaw,Andrew David Phillips,David Neil Cooper +5 more
TL;DR: The Human Gene Mutation Database (HGMD®) is a comprehensive collection of germline mutations in nuclear genes that underlie, or are associated with, human inherited disease.
Journal ArticleDOI
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies
Peter D. Stenson,Matthew Mort,Edward V. Ball,Katy Evans,Matthew J. Hayden,Sally Heywood,Michelle Hussain,Andrew David Phillips,David Neil Cooper +8 more
TL;DR: The Human Gene Mutation Database constitutes de facto the central unified gene/disease-oriented repository of heritable mutations causing human genetic disease used worldwide by researchers, clinicians, diagnostic laboratories and genetic counsellors, and is an essential tool for the annotation of next-generation sequencing data.
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American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants
TL;DR: The American College of Medical Genetics has developed the following professional guidelines for the interpretation and reporting of copy number variation: evaluation of constitutional copy number variants detected in the postnatal setting.
Journal ArticleDOI
Rare-disease genetics in the era of next-generation sequencing: discovery to translation
TL;DR: The impact of discovering rare-disease-causing genes, from clinical diagnostics to insights gained into biological mechanisms and common diseases, is highlighted and the increasing therapeutic opportunities and challenges that the resulting expansion of the 'atlas' of human genetic pathology will bring are explored.
Journal ArticleDOI
The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities
Jessica X. Chong,Kati J. Buckingham,Shalini N. Jhangiani,C. D. Boehm,Nara Sobreira,Joshua D. Smith,Tanya M. Harrell,Margaret J. McMillin,Wojciech Wiszniewski,Tomasz Gambin,Zeynep Coban Akdemir,Kimberly F. Doheny,Alan F. Scott,Dimitri Avramopoulos,Aravinda Chakravarti,Julie Hoover-Fong,Debra J. H. Mathews,P. Dane Witmer,Hua Ling,Kurt N. Hetrick,Lee Watkins,Karynne E. Patterson,Frederic Reinier,Elizabeth Blue,Donna M. Muzny,Martin Kircher,Kaya Bilguvar,Francesc López-Giráldez,V. Reid Sutton,Holly K. Tabor,Holly K. Tabor,Suzanne M. Leal,Murat Gunel,Shrikant Mane,Richard A. Gibbs,Eric Boerwinkle,Eric Boerwinkle,Ada Hamosh,Jay Shendure,James R. Lupski,Richard P. Lifton,Richard P. Lifton,David Valle,Deborah A. Nickerson,Michael J. Bamshad,Michael J. Bamshad +45 more
TL;DR: This collaborative effort has identified 956 genes, including 375 not previously associated with human health, that underlie a Mendelian phenotype, providing insight into study design and analytical strategies, identify novel mechanisms of disease, and reveal the extensive clinical variability of Mendelia phenotypes.
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Journal ArticleDOI
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TL;DR: This book aims to provide a history of Chinese modern art from 17th Century to the present day through the lens of 20th Century critics, practitioners, journalists, and mediaeval and modern-day critics.
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TL;DR: Functional data from multiple, diverse experiments performed on a targeted 1% of the human genome as part of the pilot phase of the ENCODE Project are reported, providing convincing evidence that the genome is pervasively transcribed, such that the majority of its bases can be found in primary transcripts.