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ClinGen Allele Registry links information about genetic variants.
Pawliczek P, Patel RY, Ashmore LR, Jackson AR, Bizon C, Nelson T, Powell B, Freimuth RR, Strande N, Shah N, Paithankar S, Wright MW, Dwight S, Zhen J, Landrum M, McGarvey P, Babb L, Plon SE, Milosavljevic A; Clinical Genome (ClinGen) Resource. Pawliczek P, et al. Among authors: nelson t. Hum Mutat. 2018 Nov;39(11):1690-1701. doi: 10.1002/humu.23637. Hum Mutat. 2018. PMID: 30311374 Free PMC article.
ClinGen--the Clinical Genome Resource.
Rehm HL, Berg JS, Brooks LD, Bustamante CD, Evans JP, Landrum MJ, Ledbetter DH, Maglott DR, Martin CL, Nussbaum RL, Plon SE, Ramos EM, Sherry ST, Watson MS; ClinGen. Rehm HL, et al. N Engl J Med. 2015 Jun 4;372(23):2235-42. doi: 10.1056/NEJMsr1406261. Epub 2015 May 27. N Engl J Med. 2015. PMID: 26014595 Free PMC article.
ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants.
Patel RY, Shah N, Jackson AR, Ghosh R, Pawliczek P, Paithankar S, Baker A, Riehle K, Chen H, Milosavljevic S, Bizon C, Rynearson S, Nelson T, Jarvik GP, Rehm HL, Harrison SM, Azzariti D, Powell B, Babb L, Plon SE, Milosavljevic A; ClinGen Resource. Patel RY, et al. Among authors: nelson t. Genome Med. 2017 Jan 12;9(1):3. doi: 10.1186/s13073-016-0391-z. Genome Med. 2017. PMID: 28081714 Free PMC article.
Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVar.
Riggs ER, Nelson T, Merz A, Ackley T, Bunke B, Collins CD, Collinson MN, Fan YS, Goodenberger ML, Golden DM, Haglund-Hazy L, Krgovic D, Lamb AN, Lewis Z, Li G, Liu Y, Meck J, Neufeld-Kaiser W, Runke CK, Sanmann JN, Stavropoulos DJ, Strong E, Su M, Tayeh MK, Kokalj Vokac N, Thorland EC, Andersen E, Martin CL. Riggs ER, et al. Among authors: nelson t. Hum Mutat. 2018 Nov;39(11):1650-1659. doi: 10.1002/humu.23610. Hum Mutat. 2018. PMID: 30095202 Free PMC article.
The GA4GH Variation Representation Specification: A computational framework for variation representation and federated identification.
Wagner AH, Babb L, Alterovitz G, Baudis M, Brush M, Cameron DL, Cline M, Griffith M, Griffith OL, Hunt SE, Kreda D, Lee JM, Li S, Lopez J, Moyer E, Nelson T, Patel RY, Riehle K, Robinson PN, Rynearson S, Schuilenburg H, Tsukanov K, Walsh B, Konopko M, Rehm HL, Yates AD, Freimuth RR, Hart RK. Wagner AH, et al. Among authors: nelson t. Cell Genom. 2021 Nov 10;1(2):100027. doi: 10.1016/j.xgen.2021.100027. Cell Genom. 2021. PMID: 35311178 Free PMC article.
Generating Clinical-Grade Gene-Disease Validity Classifications Through the ClinGen Data Platforms.
Wright MW, Thaxton CL, Nelson T, DiStefano MT, Savatt JM, Brush MH, Cheung G, Mandell ME, Wulf B, Ward TJ, Goehringer S, O'Neill T, Weller P, Preston CG, Keseler IM, Goldstein JL, Strande NT, McGlaughon J, Azzariti DR, Cordova I, Dziadzio H, Babb L, Riehle K, Milosavljevic A, Martin CL, Rehm HL, Plon SE, Berg JS, Riggs ER, Klein TE. Wright MW, et al. Among authors: nelson t. Annu Rev Biomed Data Sci. 2024 Aug;7(1):31-50. doi: 10.1146/annurev-biodatasci-102423-112456. Epub 2024 Jul 24. Annu Rev Biomed Data Sci. 2024. PMID: 38663031 Review.
2,210 results