The challenge of comprehensive and consistent sequence variant interpretation between clinical laboratories.

Melanie G PepinMitzi L MurraySamuel BaileyDru Leistritz-KesslerUlrike SchwarzePeter H Byers

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2015)

Comprehensive interpretation of sequence variants depends on good functional tests and well-curated variant databases. Provision of clinical information to the clinical laboratory, mandatory submission of identified variants with phenotype data to common resources, and collaboration between clinical laboratories and recognized experts is likely to improve consistency in variant interpretation among clinical laboratories.Genet Med 18 1, 20-24.

Keyphrases

healthcare
gene expression
copy number
electronic health record
data analysis