Lessons learned from additional research analyses of unsolved clinical exome cases

• Published in: Genome medicine Vol. 9; no. 1; p. 26
• Main Authors: Eldomery, Mohammad K., Coban-Akdemir, Zeynep, Harel, Tamar, Rosenfeld, Jill A., Gambin, Tomasz, Stray-Pedersen, Asbjørg, Küry, Sébastien, Mercier, Sandra, Lessel, Davor, Denecke, Jonas, Wiszniewski, Wojciech, Penney, Samantha, Liu, Pengfei, Bi, Weimin, Lalani, Seema R., Schaaf, Christian P., Wangler, Michael F., Bacino, Carlos A., Lewis, Richard Alan, Potocki, Lorraine, Graham, Brett H., Belmont, John W., Scaglia, Fernando, Orange, Jordan S., Jhangiani, Shalini N., Chiang, Theodore, Doddapaneni, Harsha, Hu, Jianhong, Muzny, Donna M., Xia, Fan, Beaudet, Arthur L., Boerwinkle, Eric, Eng, Christine M., Plon, Sharon E., Sutton, V. Reid, Gibbs, Richard A., Posey, Jennifer E., Yang, Yaping, Lupski, James R.
• Format: Journal Article
• Language: English
• Published: England BioMed Central 21.03.2017
• Subjects: Adenosine Triphosphatases - genetics; Age; Alleles; Ataxia; ATPases Associated with Diverse Cellular Activities; Autism; Bcl protein; Bioinformatics; Burrows; Calcium channels (voltage-gated); Cerebellar ataxia; Cerebellum; Cholesterol; Clonal deletion; Coenzyme A; Computational Biology - methods; Computer applications; Computer programs; DNA Copy Number Variations; DNA-Binding Proteins - genetics; Epilepsy; Exome; Exons; Female; Genes; Genetic Diseases, Inborn - diagnosis; Genetic Diseases, Inborn - genetics; Genetic Diseases, Inborn - metabolism; Genomics; Genomics - methods; GTP-Binding Protein beta Subunits - genetics; Humans; Laboratories; Macular degeneration; Male; Membrane Proteins - genetics; Metalloendopeptidases - genetics; Mitochondrial Proteins - genetics; Mutation; Nucleotide sequence; Pathogenicity; Pilot Projects; Polymorphism, Single Nucleotide; Retina; Sequence Analysis, DNA - methods; Siblings; Transcription Factors - genetics

Given the rarity of most single-gene Mendelian disorders, concerted efforts of data exchange between clinical and scientific communities are critical to optimize molecular diagnosis and novel disease gene discovery. We designed and implemented protocols for the study of cases for which a plausible m...