MobiDetails: online DNA variants interpretation
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://www.nature.com/articles/s41431-020-00755-z.pdf
Reference35 articles.
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3. Boussaroque A, Bergougnoux A, Raynal C, Audrézet M-P, Sasorith S, Férec C, et al. Pitfalls in the interpretation of CFTR variants in the context of incidental findings. Hum Mutat. 2019;40:2239–46.
4. Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17:405–23.
5. Kopanos C, Tsiolkas V, Kouris A, Chapple CE, Albarca Aguilera M, Meyer R, et al. VarSome: the human genomic variant search engine. Bioinformatics. 2019;35:1978–80.
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