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213 results

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Page 1
AnFiSA: An open-source computational platform for the analysis of sequencing data for rare genetic disease.
Bouzinier MA, Etin D, Trifonov SI, Evdokimova VN, Ulitin V, Shen J, Kokorev A, Ghazani AA, Chekaluk Y, Albertyn Z, Giersch A, Morton CC, Abraamyan F, Bendapudi PK, Sunyaev S, Undiagnosed Diseases Network, Brigham Genomic Medicine, SEQuencing A Baby For An Optimal Outcome, Quantori, Krier JB. Bouzinier MA, et al. Among authors: sunyaev s. J Biomed Inform. 2022 Sep;133:104174. doi: 10.1016/j.jbi.2022.104174. Epub 2022 Aug 23. J Biomed Inform. 2022. PMID: 35998814 Free article.
An argument for early genomic sequencing in atypical cases: a WISP3 variant leads to diagnosis of progressive pseudorheumatoid arthropathy of childhood.
Cassa CA, Smith SE, Docken W, Hoffman E, McLaughlin H, Chun S, Leshchiner I, Miraoui H, Raychaudhuri S, Frank NY, Wilson BJ, Sunyaev SR, Maas RL; Brigham Genomic Medicine; Vuzman D. Cassa CA, et al. Among authors: sunyaev sr. Rheumatology (Oxford). 2016 Mar;55(3):586-9. doi: 10.1093/rheumatology/kev367. Epub 2015 Oct 22. Rheumatology (Oxford). 2016. PMID: 26493744 Free PMC article. No abstract available.
novoCaller: a Bayesian network approach for de novo variant calling from pedigree and population sequence data.
Mohanty AK, Vuzman D, Francioli L, Cassa C; Brigham Genomic Medicine; Undiagnosed Diseases Network; Brigham and Women’s Hospital FaceBase Project; Toth-Petroczy A, Sunyaev S. Mohanty AK, et al. Among authors: sunyaev s. Bioinformatics. 2019 Apr 1;35(7):1174-1180. doi: 10.1093/bioinformatics/bty749. Bioinformatics. 2019. PMID: 30169785 Free PMC article.
Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases.
Kobren SN, Baldridge D, Velinder M, Krier JB, LeBlanc K, Esteves C, Pusey BN, Züchner S, Blue E, Lee H, Huang A, Bastarache L, Bican A, Cogan J, Marwaha S, Alkelai A, Murdock DR, Liu P, Wegner DJ, Paul AJ; Undiagnosed Diseases Network; Sunyaev SR, Kohane IS. Kobren SN, et al. Among authors: sunyaev sr. Genet Med. 2021 Jun;23(6):1075-1085. doi: 10.1038/s41436-020-01084-8. Epub 2021 Feb 12. Genet Med. 2021. PMID: 33580225 Free PMC article.
Mutation mapping and identification by whole-genome sequencing.
Leshchiner I, Alexa K, Kelsey P, Adzhubei I, Austin-Tse CA, Cooney JD, Anderson H, King MJ, Stottmann RW, Garnaas MK, Ha S, Drummond IA, Paw BH, North TE, Beier DR, Goessling W, Sunyaev SR. Leshchiner I, et al. Among authors: sunyaev sr. Genome Res. 2012 Aug;22(8):1541-8. doi: 10.1101/gr.135541.111. Epub 2012 May 3. Genome Res. 2012. PMID: 22555591 Free PMC article.
Network-based inference from complex proteomic mixtures using SNIPE.
Nusinow DP, Kiezun A, O'Connell DJ, Chick JM, Yue Y, Maas RL, Gygi SP, Sunyaev SR. Nusinow DP, et al. Bioinformatics. 2012 Dec 1;28(23):3115-22. doi: 10.1093/bioinformatics/bts594. Epub 2012 Oct 11. Bioinformatics. 2012. PMID: 23060611 Free PMC article.
Systems biology and the analysis of genetic variation.
Sunyaev SR, Roth FP. Sunyaev SR, et al. Curr Opin Genet Dev. 2013 Dec;23(6):599-601. doi: 10.1016/j.gde.2013.11.010. Epub 2013 Nov 28. Curr Opin Genet Dev. 2013. PMID: 24291212 Free PMC article. No abstract available.
213 results