Keeping up with the genomes: scaling genomic variant interpretation
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics,Molecular Biology,Molecular Medicine
Link
http://link.springer.com/content/pdf/10.1186/s13073-019-0700-4.pdf
Reference11 articles.
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2. Abul-Husn NS, Soper ER, Odgis JA, Cullina S, Bobo D, Moscati A, et al. Exome sequencing reveals a high prevalence of BRCA1 and BRCA2 founder variants in a diverse population-based biobank. Genome Med. 2019. https://doi.org/10.1186/s13073-019-0691-1
3. Brnich SA, Abou Tayoun AN, Couch FJ, Cutting G, Greenblatt MS, Heinen CD, et al. Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework. Genome Med. 2019. https://doi.org/10.1186/s13073-019-0690-2
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;17:405–24.
5. Gelman et al. Recommendations for the collection and use of multiplexed functional data for clinical variant interpretation. Genome Med. 2019. https://doi.org/10.1186/s13073-019-0698-7
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