Systematic reanalysis of clinical exome data yields additional diagnoses: implications for providers

Yang Yang Lee Iglesias Retterer Cornish McCarthy Baumgartner Centers for Mendelian Genomics DDD Study; Homozygosity Mapping Collaborative for Autism; UK10K Consortium Dewey Jamal ACMG Laboratory Quality Assurance Committee Li H. Aligning sequence reads, clone sequences and assembly contigs with BWA-MEM. ArXiv13033997 Q-Bio March 2013. http://arxiv.org/abs/1303.3997. Accessed 14 January 2016. Broad Insitute. Picard Tools. http://broadinstitute.github.io/picard/. Accessed 14 January 2016. DePristo Girdea Köhler Wang Yates Exome Aggregation Consortium, Lek M, Karczewski K, et al. Analysis of protein-coding genetic variation in 60,706 humans. bioRxiv 2015:030338. 1000 Genomes Project Consortium Amberger Stenson PD, Ball EV, Mort M, Phillips AD, Shaw K, Cooper DN. The Human Gene Mutation Database (HGMD) and its exploitation in the fields of personalized genomics and molecular evolution. Curr Protoc Bioinforma Ed Board Andreas Baxevanis Al 2012;Chapter 1:Unit1.13. Jones Bramswig Vulto-van Silfhout Vissers Rauch Rice Thauvin-Robinet DDD study Iossifov