Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource

American Journal of Human Genetics

Volumn 100, Issue 6, 2017, Pages 895-906

  Strande, Natasha T ^a   Riggs, Erin Rooney ^b   Buchanan, Adam H ^b   Ceyhan Birsoy, Ozge ^c,d,e,f   DiStefano, Marina ^c   Dwight, Selina S ^g   Goldstein, Jenny ^a   Ghosh, Rajarshi ^h   Seifert, Bryce A ^a   Sneddon, Tam P ^g   Wright, Matt W ^g   Milko, Laura V ^a   Cherry, J Michael ^g   Giovanni, Monica A ^b   Murray, Michael F ^b   O'Daniel, Julianne M ^a   Ramos, Erin M ⁱ   Santani, Avni B ^j,k   Scott, Alan F ^l   Plon, Sharon E ^h   Rehm, Heidi L ^c,d,e,f   Martin, Christa L ^b   Berg, Jonathan S ^a   more..

^a UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

^b GEISINGER HEALTH SYSTEM   (United States)

^c Partners Center for Personalized Genomic Medicine   (United States)

^d BROAD INSTITUTE OF MIT AND HARVARD   (United States)

^e HARVARD MEDICAL SCHOOL   (United States)

^f BRIGHAM AND WOMEN S HOSPITAL   (United States)

^g STANFORD UNIVERSITY   (United States)

^h BAYLOR COLLEGE OF MEDICINE   (United States)

ⁱ NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^j UNIVERSITY OF PENNSYLVANIA   (United States)

^k CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^l JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

more..

Author keywords

biocuration; ClinGen Clinical Genome Resource; clinical validity; evidence framework; gene disease association; genetic testing; Mendelian disorders

Indexed keywords

ACHONDROPLASIA; AGYRIA; ARTHROGRYPOSIS; ARTICLE; BLACKFAN DIAMOND ANEMIA; BONE DYSPLASIA; BONE MARROW DEPRESSION; BREAST CANCER; CARDIOVASCULAR DISEASE; CHONDRODYSPLASIA PUNCTATA; CLINICAL CLASSIFICATION; CLINICAL GENETICS; CLINICAL VALIDITY; COLOR BLINDNESS; CONGESTIVE CARDIOMYOPATHY; DISEASE ASSOCIATION; DYSKERATOSIS CONGENITA; FAMILIAL DISEASE; FANCONI ANEMIA; GENETIC ASSOCIATION; HEREDITARY TUMOR SYNDROME; HUMAN; IMMUNOPATHOLOGY; INHERITANCE; INTELLECTUAL IMPAIRMENT; KIDNEY MALFORMATION; LOEYS DIETZ SYNDROME; LONG QT SYNDROME; MANDIBULOFACIAL DYSOSTOSIS; MONOGENIC DISORDER; NEUROMUSCULAR DISEASE; NOONAN SYNDROME; PRIORITY JOURNAL; ROMANO-WARD SYNDROME; SEVERE COMBINED IMMUNODEFICIENCY; SPONDYLOEPIPHYSEAL DYSPLASIA; URINARY TRACT MALFORMATION; VALIDITY; WEBBED NECK; GENETIC ASSOCIATION STUDY; GENETIC PREDISPOSITION; GENOMICS; REPRODUCIBILITY;

GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; GENOMICS; HUMANS; REPRODUCIBILITY OF RESULTS;

EID: 85019602549     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2017.04.015     Document Type: Article

References (12)

1. 1 Chong, J.X., Buckingham, K.J., Jhangiani, S.N., Boehm, C., Sobreira, N., Smith, J.D., Harrell, T.M., McMillin, M.J., Wiszniewski, W., Gambin, T., et al., Centers for Mendelian Genomics. The genetic basis of Mendelian phenotypes: discoveries, challenges, and opportunities. Am. J. Hum. Genet. 97 (2015), 199–215.
2. 2 Haddow, J., Palomacki, G., ACCE: a model process for evaluating data on emerging genetic tests. Khoury, M., Little, J., Burke, W., (eds.) Human Genome Epidemiology: A Scientific Foundation for Using Genetic Information to Improve Health and Prevent Disease, 2003, Oxford University Press, 217–233.
3. 3 Wilfert, A.B., Chao, K.R., Kaushal, M., Jain, S., Zöllner, S., Adams, D.R., Conrad, D.F., Genome-wide significance testing of variation from single case exomes. Nat. Genet. 48 (2016), 1455–1461.
4. 4 Eisenberger, T., Di Donato, N., Baig, S.M., Neuhaus, C., Beyer, A., Decker, E., Mürbe, D., Decker, C., Bergmann, C., Bolz, H.J., Targeted and genomewide NGS data disqualify mutations in MYO1A, the “DFNA48 gene”, as a cause of deafness. Hum. Mutat. 35 (2014), 565–570.
5. 5 Rehm, H.L., Berg, J.S., Brooks, L.D., Bustamante, C.D., Evans, J.P., Landrum, M.J., Ledbetter, D.H., Maglott, D.R., Martin, C.L., Nussbaum, R.L., et al., ClinGen. ClinGen–the Clinical Genome Resource. N. Engl. J. Med. 372 (2015), 2235–2242.
6. 6 Lander, E., Kruglyak, L., Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results. Nat. Genet. 11 (1995), 241–247.
7. 7 Sham, P.C., Purcell, S.M., Statistical power and significance testing in large-scale genetic studies. Nat. Rev. Genet. 15 (2014), 335–346.
8. 8 Lek, M., Karczewski, K.J., Minikel, E.V., Samocha, K.E., Banks, E., Fennell, T., O'Donnell-Luria, A.H., Ware, J.S., Hill, A.J., Cummings, B.B., et al., Exome Aggregation Consortium. Analysis of protein-coding genetic variation in 60,706 humans. Nature 536 (2016), 285–291.
9. 9 MacArthur, D.G., Manolio, T.A., Dimmock, D.P., Rehm, H.L., Shendure, J., Abecasis, G.R., Adams, D.R., Altman, R.B., Antonarakis, S.E., Ashley, E.A., et al. Guidelines for investigating causality of sequence variants in human disease. Nature 508 (2014), 469–476.
10. 10 Landrum, M.J., Lee, J.M., Riley, G.R., Jang, W., Rubinstein, W.S., Church, D.M., Maglott, D.R., ClinVar: public archive of relationships among sequence variation and human phenotype. Nucleic Acids Res. 42 (2014), D980–D985.
11. 11 Fokkema, I.F., Taschner, P.E., Schaafsma, G.C., Celli, J., Laros, J.F., den Dunnen, J.T., LOVD v.2.0: the next generation in gene variant databases. Hum. Mutat. 32 (2011), 557–563.
12. 12 Collins, F.S., Varmus, H., A new initiative on precision medicine. N. Engl. J. Med. 372 (2015), 793–795.