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ClinVar: updates to support classifications of both germline and somatic variants.
Landrum MJ, Chitipiralla S, Kaur K, Brown G, Chen C, Hart J, Hoffman D, Jang W, Liu C, Maddipatla Z, Maiti R, Mitchell J, Rezaie T, Riley G, Song G, Yang J, Ziyabari L, Russette A, Kattman BL. Landrum MJ, et al. Nucleic Acids Res. 2025 Jan 6;53(D1):D1313-D1321. doi: 10.1093/nar/gkae1090. Nucleic Acids Res. 2025. PMID: 39578691 Free PMC article.
Database resources of the National Center for Biotechnology Information in 2023.
Sayers EW, Bolton EE, Brister JR, Canese K, Chan J, Comeau DC, Farrell CM, Feldgarden M, Fine AM, Funk K, Hatcher E, Kannan S, Kelly C, Kim S, Klimke W, Landrum MJ, Lathrop S, Lu Z, Madden TL, Malheiro A, Marchler-Bauer A, Murphy TD, Phan L, Pujar S, Rangwala SH, Schneider VA, Tse T, Wang J, Ye J, Trawick BW, Pruitt KD, Sherry ST. Sayers EW, et al. Among authors: landrum mj. Nucleic Acids Res. 2023 Jan 6;51(D1):D29-D38. doi: 10.1093/nar/gkac1032. Nucleic Acids Res. 2023. PMID: 36370100 Free PMC article.
ClinVar: improvements to accessing data.
Landrum MJ, Chitipiralla S, Brown GR, Chen C, Gu B, Hart J, Hoffman D, Jang W, Kaur K, Liu C, Lyoshin V, Maddipatla Z, Maiti R, Mitchell J, O'Leary N, Riley GR, Shi W, Zhou G, Schneider V, Maglott D, Holmes JB, Kattman BL. Landrum MJ, et al. Nucleic Acids Res. 2020 Jan 8;48(D1):D835-D844. doi: 10.1093/nar/gkz972. Nucleic Acids Res. 2020. PMID: 31777943 Free PMC article.
ClinGen's GenomeConnect registry enables patient-centered data sharing.
Savatt JM, Azzariti DR, Faucett WA, Harrison S, Hart J, Kattman B, Landrum MJ, Ledbetter DH, Miller VR, Palen E, Rehm HL, Rhode J, Turner S, Vidal JA, Wain KE, Riggs ER, Martin CL. Savatt JM, et al. Among authors: landrum mj. Hum Mutat. 2018 Nov;39(11):1668-1676. doi: 10.1002/humu.23633. Hum Mutat. 2018. PMID: 30311371 Free PMC article.
25 results