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GA4GH: International policies and standards for data sharing across genomic research and healthcare.
Cell Genom. 2021 Nov 10;1(2):100029. doi: 10.1016/j.xgen.2021.100029.
Cell Genom. 2021.
PMID: 35072136
Free PMC article.
Registered access: authorizing data access.
Dyke SOM, Linden M, Lappalainen I, De Argila JR, Carey K, Lloyd D, Spalding JD, Cabili MN, Kerry G, Foreman J, Cutts T, Shabani M, Rodriguez LL, Haeussler M, Walsh B, Jiang X, Wang S, Perrett D, Boughtwood T, Matern A, Brookes AJ, Cupak M, Fiume M, Pandya R, Tulchinsky I, Scollen S, Törnroos J, Das S, Evans AC, Malin BA, Beck S, Brenner SE, Nyrönen T, Blomberg N, Firth HV, Hurles M, Philippakis AA, Rätsch G, Brudno M, Boycott KM, Rehm HL, Baudis M, Sherry ST, Kato K, Knoppers BM, Baker D, Flicek P.
Dyke SOM, et al.
Eur J Hum Genet. 2018 Dec;26(12):1721-1731. doi: 10.1038/s41431-018-0219-y. Epub 2018 Aug 2.
Eur J Hum Genet. 2018.
PMID: 30069064
Free PMC article.
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Exploring Integrative Analysis Using the BioMedical Evidence Graph.
Struck A, Walsh B, Buchanan A, Lee JA, Spangler R, Stuart JM, Ellrott K.
Struck A, et al.
JCO Clin Cancer Inform. 2020 Feb;4:147-159. doi: 10.1200/CCI.19.00110.
JCO Clin Cancer Inform. 2020.
PMID: 32097025
Free PMC article.
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A harmonized meta-knowledgebase of clinical interpretations of somatic genomic variants in cancer.
Wagner AH, Walsh B, Mayfield G, Tamborero D, Sonkin D, Krysiak K, Deu-Pons J, Duren RP, Gao J, McMurry J, Patterson S, Del Vecchio Fitz C, Pitel BA, Sezerman OU, Ellrott K, Warner JL, Rieke DT, Aittokallio T, Cerami E, Ritter DI, Schriml LM, Freimuth RR, Haendel M, Raca G, Madhavan S, Baudis M, Beckmann JS, Dienstmann R, Chakravarty D, Li XS, Mockus S, Elemento O, Schultz N, Lopez-Bigas N, Lawler M, Goecks J, Griffith M, Griffith OL, Margolin AA; Variant Interpretation for Cancer Consortium.
Wagner AH, et al.
Nat Genet. 2020 Apr;52(4):448-457. doi: 10.1038/s41588-020-0603-8. Epub 2020 Apr 3.
Nat Genet. 2020.
PMID: 32246132
Free PMC article.
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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.
Cell Genom. 2021 Nov 10;1(2):100027. doi: 10.1016/j.xgen.2021.100027.
Cell Genom. 2021.
PMID: 35311178
Free PMC article.
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recountmethylation enables flexible analysis of public blood DNA methylation array data.
Maden SK, Walsh B, Ellrott K, Hansen KD, Thompson RF, Nellore A.
Maden SK, et al.
Bioinform Adv. 2023 Feb 20;3(1):vbad020. doi: 10.1093/bioadv/vbad020. eCollection 2023.
Bioinform Adv. 2023.
PMID: 36874953
Free PMC article.
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