Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions AC Fahed, M Wang, JR Homburger, AP Patel, AG Bick, CL Neben, C Lai, ... Nature communications 11 (1), 3635, 2020 | 327 | 2020 |
Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions AC Fahed, M Wang, JR Homburger, AP Patel, AG Bick, CL Neben, C Lai, ... Nature communications 11 (1), 3635, 2020 | 327 | 2020 |
LEAP: Using machine learning to support variant classification in a clinical setting C Lai, AD Zimmer, R O'Connor, S Kim, R Chan, J van den Akker, AY Zhou, ... Human mutation 41 (6), 1079-1090, 2020 | 30 | 2020 |
Assessment of blind predictions of the clinical significance of BRCA1 and BRCA2 variants MS Cline, G Babbi, S Bonache, Y Cao, R Casadio, X de la Cruz, O Díez, ... Human Mutation 40 (9), 1546-1556, 2019 | 19 | 2019 |
Polygenic background modifies penetrance of monogenic variants conferring risk for coronary artery disease, breast cancer, or colorectal cancer AC Fahed, M Wang, JR Homburger, AP Patel, AG Bick, CL Neben, C Lai, ... medRxiv, 0 | 6 | |
Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions. Nat Commun. 2020; 11 (1): 3635 AC Fahed, M Wang, JR Homburger, AP Patel, AG Bick, CL Neben, C Lai, ... Epub 2020/08/21. https://doi. org/10.1038/s41467-020-17374-3 PMID: 32820175, 0 | 6 | |
Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions. Nat. Commun. 11, 3635 AC Fahed, M Wang, JR Homburger, AP Patel, AG Bick, CL Neben, C Lai, ... | 5 | 2020 |
CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods N Null, S Jain, C Bakolitsa, SE Brenner, P Radivojac, J Moult, S Repo, ... Genome Biology 25 (1), 1-46, 2024 | 2 | 2024 |
Using Machine Learning to Support Variant Interpretation in a Clinical Setting C Lai, R O'Connor, S Topper, J Ji, W Stedden, J Homburger, ... https://static.getcolor.com/pdfs/research/Color_AGBT_PH_Poster_2018.pdf, 2018 | 2 | 2018 |
Critical assessment of genome interpretation consortium. CAGI, the critical assessment of genome interpretation, establishes progress and pprospects for computational genetic … S Jain, C Bakolitsa, EB Steven, P Radivojac, J Moult, S Repo, AH Roger, ... Genome Biology 22 (22; 25 (1): 53.), 1-46, 2024 | | 2024 |
PPM9 PARTICIPANT SCREENING BEHAVIORS AND INFORMATION SHARING AFTER GENETIC TESTING A Boateng-Kuffour, A Zimmer, A Chua, C Lai, L Ryan, H Williams, A Zhou Value in Health 22, S334, 2019 | | 2019 |
Participant screening behaviors and information sharing after genetic testing AYZ Adriana Boateng-Kuffour, Carmen Lai, Hannah Williams, Cynthia L. Neben ... https://static.getcolor.com/pdfs/research/2019_ISPOR_Boateng-Kuffour_Adriana.pdf, 2019 | | 2019 |
Polygenic risk is independent from the risk conferred by pathogenic variants in 12 known breast cancer genes J Homburger, C Lai, C L. Neben, A Zhou, G Mishne https://static.getcolor.com/pdfs/research/2019_ACMG_Julian_R_Homburger.pdf, 2019 | | 2019 |
Using low coverage sequencing for determining polygenic risk scores AYZ Julian R. Homburger, Gilad Mishne, Cynthia L. Neben, Carmen Lai, Will ... https://static.getcolor.com/pdfs/research/Color_ASHG_Poster_2018_4.pdf, 2018 | | 2018 |
Digital direct engagement is an effective method for communicating updated test results S Topper, C Neben, C Lai, C Heydrich, A Zhou https://static.getcolor.com/pdfs/research/Color_ASHG_Poster_2018_1.pdf, 2018 | | 2018 |
Breast and ovarian cancer screening behaviors and health outcomes after genetic testing A Chua, A Zimmer, J Tsai, C Lai, L Ryan, A Boateng-Kuffour, ... https://static.getcolor.com/pdfs/research/Color_NSGC_Poster_2018_1.pdf, 2018 | | 2018 |
High satisfaction with genetic counseling using telephone-based delivery method for return of results: A pilot L Servais, A Boateng-Kuffour, AD Zimmer, CL Neben, C Lai, J Scharman, ... Cancer 24, 17.5, 0 | | |
Using Machine Learning to Support Variant Interpretation in a Clinical Setting J Van den Akker, D DeSloover, A Zhou, A Zimmer, G Mishne, ... | | |