Genetic mapping and exome sequencing identify variants associated with five novel diseases

The Clinic for Special Children (CSC) has integrated biochemical and molecular methods into a rural pediatric practice serving Old Order Amish and Mennonite (Plain) children. Among the Plain people, we have used single nucleotide polymorphism (SNP) microarrays to genetically map recessive disorders...

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Veröffentlicht in:	PloS one 2012-01, Vol.7 (1), p.e28936-e28936
Hauptverfasser:	Puffenberger, Erik G, Jinks, Robert N, Sougnez, Carrie, Cibulskis, Kristian, Willert, Rebecca A, Achilly, Nathan P, Cassidy, Ryan P, Fiorentini, Christopher J, Heiken, Kory F, Lawrence, Johnny J, Mahoney, Molly H, Miller, Christopher J, Nair, Devika T, Politi, Kristin A, Worcester, Kimberly N, Setton, Roni A, Dipiazza, Rosa, Sherman, Eric A, Eastman, James T, Francklyn, Christopher, Robey-Bond, Susan, Rider, Nicholas L, Gabriel, Stacey, Morton, D Holmes, Strauss, Kevin A
Format:	Artikel
Sprache:	eng
Schlagworte:	Amino Acyl-tRNA Synthetases Amish - genetics Biology Business improvement districts Child Child, Preschool Children Chromosome Mapping - methods Coupling (molecular) CRADD Signaling Adaptor Protein Disease DNA microarrays DNA sequencing Dopamine Plasma Membrane Transport Proteins - genetics Enterprise zones Epilepsy - genetics Ethnic Groups - genetics Exome - genetics Gene mapping Gene polymorphism Gene sequencing Genes Genetic aspects Genetic Association Studies - methods Genetic Predisposition to Disease - genetics Genotyping Haplotypes Hospitals Humans Infant Infant, Newborn Intellectual Disability - genetics Intracellular Signaling Peptides and Proteins - genetics Lists Mapping Medicine Membrane Transport Proteins - genetics Microtubule-Associated Proteins - genetics Mutation Neurosciences Nuclear electric power generation Nuclear Proteins - genetics Parkinsonian Disorders - genetics Pathogenicity Pathogens Polymorphism Polymorphism, Single Nucleotide Population genetics Receptors, Virus - genetics Seizures - genetics Sequence Analysis, DNA - methods Single nucleotide polymorphisms Single-nucleotide polymorphism Usher Syndromes - genetics
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