Identification of novel candidate disease genes from de novo exonic copy number variants

Exon-targeted microarrays can detect small (

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Bibliographische Detailangaben
Veröffentlicht in:	Genome medicine 2017-09, Vol.9 (1), p.83-83, Article 83
Hauptverfasser:	Gambin, Tomasz, Yuan, Bo, Bi, Weimin, Liu, Pengfei, Rosenfeld, Jill A, Coban-Akdemir, Zeynep, Pursley, Amber N, Nagamani, Sandesh C S, Marom, Ronit, Golla, Sailaja, Dengle, Lauren, Petrie, Heather G, Matalon, Reuben, Emrick, Lisa, Proud, Monica B, Treadwell-Deering, Diane, Chao, Hsiao-Tuan, Koillinen, Hannele, Brown, Chester, Urraca, Nora, Mostafavi, Roya, Bernes, Saunder, Roeder, Elizabeth R, Nugent, Kimberly M, Bader, Patricia I, Bellus, Gary, Cummings, Michael, Northrup, Hope, Ashfaq, Myla, Westman, Rachel, Wildin, Robert, Beck, Anita E, Immken, LaDonna, Elton, Lindsay, Varghese, Shaun, Buchanan, Edward, Faivre, Laurence, Lefebvre, Mathilde, Schaaf, Christian P, Walkiewicz, Magdalena, Yang, Yaping, Kang, Sung-Hae L, Lalani, Seema R, Bacino, Carlos A, Beaudet, Arthur L, Breman, Amy M, Smith, Janice L, Cheung, Sau Wai, Lupski, James R, Patel, Ankita, Shaw, Chad A, Stankiewicz, Paweł
Format:	Artikel
Sprache:	eng
Schlagworte:	Allelomorphism Arrays Autism CNVs Cohort Studies Copy number Copy number variations Data processing de novo variants Disease Disease susceptibility DNA Copy Number Variations DNA microarrays Exon targeted array CGH Exons Genes Genetic aspects Genetic Diseases, Inborn Genome, Human Genomes Genomics Health aspects Homeodomain Proteins - genetics Humans Identification and classification Intellectual disabilities Intracellular Signaling Peptides and Proteins - genetics Intragenic copy number variants Laboratories Males Membrane Proteins - genetics Mutation Neurodevelopmental Disorders - genetics Protein-Serine-Threonine Kinases - genetics Retrospective Studies Transcription Factors - genetics Whole Genome Sequencing
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Zusammenfassung:	Exon-targeted microarrays can detect small (
ISSN:	1756-994X 1756-994X
DOI:	10.1186/s13073-017-0472-7