Keeping up with the genomes: scaling genomic variant interpretation
- PMID: 31892366
- PMCID: PMC6938604
- DOI: 10.1186/s13073-019-0700-4
Keeping up with the genomes: scaling genomic variant interpretation
Conflict of interest statement
The authors declare that they have no competing interests.
References
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- Lindstrand A, Eisfeldt J, Pettersson M, Carvalho CMB, Kvarnung M, Grigelioniene G, et al. From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability. Genome Med. 2019;11:68. doi: 10.1186/s13073-019-0675-1. - DOI - PMC - PubMed
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- 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;17:405–424. doi: 10.1038/gim.2015.30. - DOI - PMC - PubMed
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