Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders

Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders

Abstract Background Classifying pathogenicity of missense variants represents a major challenge in clinical practice during the diagnoses of rare and genetic heterogeneous neurodevelopmental disorders (NDDs). While orthologous gene conservation is commonly employed in variant annotation, approximate...

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Main Authors: Dennis Lal, Patrick May, Eduardo Perez-Palma, Kaitlin E. Samocha, Jack A. Kosmicki, Elise B. Robinson, Rikke S. Møller, Roland Krause, Peter Nürnberg, Sarah Weckhuysen, Peter De Jonghe, Renzo Guerrini, Lisa M. Niestroj, Juliana Du, Carla Marini, EuroEPINOMICS-RES Consortium, James S. Ware, Mitja Kurki, Padhraig Gormley, Sha Tang, Sitao Wu, Saskia Biskup, Annapurna Poduri, Bernd A. Neubauer, Bobby P. C. Koeleman, Katherine L. Helbig, Yvonne G. Weber, Ingo Helbig, Amit R. Majithia, Aarno Palotie, Mark J. Daly
Format: Article
Language:English
Published: BMC 2020-03-01
Series:Genome Medicine
Subjects:
Paralogs
Gene family
Conservation
Missense variants
Neurodevelopmental disorders
Online Access:http://link.springer.com/article/10.1186/s13073-020-00725-6

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http://link.springer.com/article/10.1186/s13073-020-00725-6

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