TY - JOUR AU - Lindstrand, A. AU - Eisfeldt, J. AU - Pettersson, M. AU - Carvalho, C. M. B. AU - Kvarnung, M. AU - Grigelioniene, G. PY - 2019 DA - 2019// TI - 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 JO - Genome Med VL - 11 UR - https://doi.org/10.1186/s13073-019-0675-1 DO - 10.1186/s13073-019-0675-1 ID - Lindstrand2019 ER - TY - STD TI - 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 ID - ref2 ER - TY - STD TI - 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 ID - ref3 ER - TY - JOUR AU - Richards, S. AU - Aziz, N. AU - Bale, S. AU - Bick, D. AU - Das, S. AU - Gastier-Foster, J. PY - 2015 DA - 2015// TI - 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 JO - Genet Med VL - 17 UR - https://doi.org/10.1038/gim.2015.30 DO - 10.1038/gim.2015.30 ID - Richards2015 ER - TY - STD TI - 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 ID - ref5 ER - TY - STD TI - Lal D, May P, Samocha KE, Kosmicki JA, Robinson EB, MØller RS, et al. Gene family information facilitates variant interpretation and identification of disease-associated genes. bioRxiv 159780; https://doi.org/10.1101/159780 ID - ref6 ER - TY - STD TI - Middelkamp S, Vlaar JM, Giltay J, Korzelius J, Besselink N, Boymans S, et al. Prioritization of genes driving congenital phenotypes of patients with de novo structural variants. Genome Med. 2019. https://doi.org/10.1186/s13073-019-0692-0 ID - ref7 ER - TY - JOUR AU - Li, M. M. AU - Datto, M. AU - Duncavage, E. J. AU - Kulkarni, S. AU - Lindeman, N. I. AU - Roy, S. PY - 2017 DA - 2017// TI - Standards and guidelines for the interpretation and reporting of sequence variants in cancer: a joint consensus recommendation of the Association for Molecular Pathology, American Society of Clinical Oncology, and College of American Pathologists JO - J Mol Diagn VL - 19 UR - https://doi.org/10.1016/j.jmoldx.2016.10.002 DO - 10.1016/j.jmoldx.2016.10.002 ID - Li2017 ER - TY - STD TI - Lever J, Jones MR, Danos AM, Krysiak K, Bonakdar M, Grewal J, et al. Text-mining clinically relevant cancer biomarkers for curation into the CIViC database. Genome Med. 2019. https://doi.org/10.1186/s13073-019-0686-y ID - ref9 ER - TY - JOUR AU - He, M. M. AU - Li, Q. AU - Yan, M. AU - Cao, H. AU - Hu, Y. AU - He, K. Y. PY - 2019 DA - 2019// TI - Variant interpretation for Cancer (VIC): a computational tool for assessing clinical impacts of somatic variants JO - Genome Med VL - 11 UR - https://doi.org/10.1186/s13073-019-0664-4 DO - 10.1186/s13073-019-0664-4 ID - He2019 ER - TY - STD TI - Danos et al. Standard operating procedure for curation and clinical interpretation of variants in cancer. Genome Med. 2019;11:76. https://doi.org/10.1186/s13073-019-0687-x ID - ref11 ER -