ClinGen expert clinical validity curation of 164 hearing lossgene–disease pairs

PurposeProper interpretation of genomic variants is critical to successful medical decision making based on genetic testing results. A fundamental prerequisite to accurate variant interpretation is the clear understanding of the clinical validity of gene–disease relationships. The Clinical Genome Re...

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Veröffentlicht in:	Genetics in medicine 2019-10, Vol.21 (10), p.2239-2247
Hauptverfasser:	DiStefano, Marina T, Hemphill, Sarah E, Oza, Andrea M, Siegert, Rebecca K, Grant, Andrew R, Hughes, Madeline Y, Cushman, Brandon J, Azaiez Hela, Booth, Kevin T, Chapin, Alex, Duzkale Hatice, Matsunaga Tatsuo, Shen, Jun, Zhang, Wenying, Kenna, Margaret, Schimmenti, Lisa A, Tekin Mustafa, Rehm, Heidi L, Tayoun Ahmad N Abou, Amr, Sami S, Abdelhak Sonia, Alexander, John, Avraham, Karen, Bhatia Neha, Bai Donglin, Boczek Nicole, Brownstein Zippora, Burt, Rachel, Bylstra Yasmin, del Castillo Ignacio, Choi, Byung Yoon, Downie, Lilian, Friedman, Thomas, Giersch, Anne, Goh Jasmine, Greinwald, John, Griffith, Andrew J, Hernandez, Amy, Holt, Jeffrey, Hosoya Makoto, Ying Lim Jiin, Jain Kanika, Un-Kyung, Kim, Kremer Hannie, Krantz, Ian, Leal, Suzanne, Lewis, Morag, Liu Xue Zhong, Low, Wendy, Lu, Yu, Luo Minjie, Masmoudi Saber, Ming Tan Yuen, Moreno-Pelayo, Miguel Angel, Morín Matías, Morton, Cynthia, Murray, Jaclyn, Mutai Hideki, Kiyomitsu, Nara, Pandya Arti, Pei-Rong, Sylvia Kam, Smith Richard J H, Jamuar Saumya Shekhar, Suer Funda Elif, Usami Shin-Ichi, Van Camp Guy, Yamazawa Kazuki, Hui-Jun, Yuan, Black-Zeigelbein, Elizabeth, Zhang Keijan
Format:	Artikel
Sprache:	eng
Schlagworte:	Genes Hearing loss Validity
Online-Zugang:	Volltext
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