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Page 1
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. Among authors: kattman bl. Nucleic Acids Res. 2024 Nov 23:gkae1090. doi: 10.1093/nar/gkae1090. Online ahead of print. Nucleic Acids Res. 2024. PMID: 39578691
The evolution of dbSNP: 25 years of impact in genomic research.
Phan L, Zhang H, Wang Q, Villamarin R, Hefferon T, Ramanathan A, Kattman B. Phan L, et al. Among authors: kattman b. Nucleic Acids Res. 2024 Nov 12:gkae977. doi: 10.1093/nar/gkae977. Online ahead of print. Nucleic Acids Res. 2024. PMID: 39530225
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. Among authors: kattman bl. Nucleic Acids Res. 2020 Jan 8;48(D1):D835-D844. doi: 10.1093/nar/gkz972. Nucleic Acids Res. 2020. PMID: 31777943 Free PMC article.
SPDI: data model for variants and applications at NCBI.
Holmes JB, Moyer E, Phan L, Maglott D, Kattman B. Holmes JB, et al. Among authors: kattman b. Bioinformatics. 2020 Mar 1;36(6):1902-1907. doi: 10.1093/bioinformatics/btz856. Bioinformatics. 2020. PMID: 31738401 Free PMC article.
ClinVar at five years: Delivering on the promise.
Landrum MJ, Kattman BL. Landrum MJ, et al. Among authors: kattman bl. Hum Mutat. 2018 Nov;39(11):1623-1630. doi: 10.1002/humu.23641. Hum Mutat. 2018. PMID: 30311387 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: kattman b. Hum Mutat. 2018 Nov;39(11):1668-1676. doi: 10.1002/humu.23633. Hum Mutat. 2018. PMID: 30311371 Free PMC article.
ClinVar: improving access to variant interpretations and supporting evidence.
Landrum MJ, Lee JM, Benson M, Brown GR, Chao C, Chitipiralla S, Gu B, Hart J, Hoffman D, Jang W, Karapetyan K, Katz K, Liu C, Maddipatla Z, Malheiro A, McDaniel K, Ovetsky M, Riley G, Zhou G, Holmes JB, Kattman BL, Maglott DR. Landrum MJ, et al. Among authors: kattman bl. Nucleic Acids Res. 2018 Jan 4;46(D1):D1062-D1067. doi: 10.1093/nar/gkx1153. Nucleic Acids Res. 2018. PMID: 29165669 Free PMC article.
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