Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics

• Published in: Human mutation Vol. 31; no. 6; pp. 631 - 655
• Main Authors: Cooper, David N, Chen, Jian-Min, Ball, Edward V, Howells, Katy, Mort, Matthew, Phillips, Andrew D, Chuzhanova, Nadia, Krawczak, Michael, Kehrer-Sawatzki, Hildegard, Stenson, Peter D
• Format: Journal Article
• Language: English
• Published: Hoboken Wiley Subscription Services, Inc., A Wiley Company 01.06.2010; John Wiley & Sons, Inc; Wiley
• Subjects: disease genes; functionome; gene definition; gene essentiality; gene number; Genetic Diseases, Inborn - genetics; Genetic Predisposition to Disease - genetics; Genome, Human - genetics; Genomics - methods; Genomics - statistics & numerical data; Genomics - trends; HGMD; Human Gene Mutation Database; human genome; Humans; inherited mutations; Mutation; mutation detection; mutome; noncoding regions; Open Reading Frames - genetics; Polymorphism, Genetic; Regulatory Sequences, Nucleic Acid - genetics; Life Sciences

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 facili...