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A research roadmap for next-generation sequencing informatics.
Altman RB, Prabhu S, Sidow A, Zook JM, Goldfeder R, Litwack D, Ashley E, Asimenos G, Bustamante CD, Donigan K, Giacomini KM, Johansen E, Khuri N, Lee E, Liang XS, Salit M, Serang O, Tezak Z, Wall DP, Mansfield E, Kass-Hout T. Altman RB, et al. Among authors: salit m. Sci Transl Med. 2016 Apr 20;8(335):335ps10. doi: 10.1126/scitranslmed.aaf7314. Sci Transl Med. 2016. PMID: 27099173 Free PMC article. Review.
Good laboratory practice for clinical next-generation sequencing informatics pipelines.
Gargis AS, Kalman L, Bick DP, da Silva C, Dimmock DP, Funke BH, Gowrisankar S, Hegde MR, Kulkarni S, Mason CE, Nagarajan R, Voelkerding KV, Worthey EA, Aziz N, Barnes J, Bennett SF, Bisht H, Church DM, Dimitrova Z, Gargis SR, Hafez N, Hambuch T, Hyland FC, Luna RA, MacCannell D, Mann T, McCluskey MR, McDaniel TK, Ganova-Raeva LM, Rehm HL, Reid J, Campo DS, Resnick RB, Ridge PG, Salit ML, Skums P, Wong LJ, Zehnbauer BA, Zook JM, Lubin IM. Gargis AS, et al. Among authors: salit ml. Nat Biotechnol. 2015 Jul;33(7):689-93. doi: 10.1038/nbt.3237. Nat Biotechnol. 2015. PMID: 26154004 Free PMC article. No abstract available.
Achieving high-sensitivity for clinical applications using augmented exome sequencing.
Patwardhan A, Harris J, Leng N, Bartha G, Church DM, Luo S, Haudenschild C, Pratt M, Zook J, Salit M, Tirch J, Morra M, Chervitz S, Li M, Clark M, Garcia S, Chandratillake G, Kirk S, Ashley E, Snyder M, Altman R, Bustamante C, Butte AJ, West J, Chen R. Patwardhan A, et al. Among authors: salit m. Genome Med. 2015 Jul 16;7(1):71. doi: 10.1186/s13073-015-0197-4. eCollection 2015. Genome Med. 2015. PMID: 26269718 Free PMC article.
svviz: a read viewer for validating structural variants.
Spies N, Zook JM, Salit M, Sidow A. Spies N, et al. Among authors: salit m. Bioinformatics. 2015 Dec 15;31(24):3994-6. doi: 10.1093/bioinformatics/btv478. Epub 2015 Aug 18. Bioinformatics. 2015. PMID: 26286809
Minimum information for reporting next generation sequence genotyping (MIRING): Guidelines for reporting HLA and KIR genotyping via next generation sequencing.
Mack SJ, Milius RP, Gifford BD, Sauter J, Hofmann J, Osoegawa K, Robinson J, Groeneweg M, Turenchalk GS, Adai A, Holcomb C, Rozemuller EH, Penning MT, Heuer ML, Wang C, Salit ML, Schmidt AH, Parham PR, Müller C, Hague T, Fischer G, Fernandez-Viňa M, Hollenbach JA, Norman PJ, Maiers M. Mack SJ, et al. Among authors: salit ml. Hum Immunol. 2015 Dec;76(12):954-62. doi: 10.1016/j.humimm.2015.09.011. Epub 2015 Sep 25. Hum Immunol. 2015. PMID: 26407912 Free PMC article.
Unmet needs: Research helps regulators do their jobs.
Altman RB, Khuri N, Salit M, Giacomini KM. Altman RB, et al. Among authors: salit m. Sci Transl Med. 2015 Nov 25;7(315):315ps22. doi: 10.1126/scitranslmed.aac4369. Sci Transl Med. 2015. PMID: 26606966 Review.
svclassify: a method to establish benchmark structural variant calls.
Parikh H, Mohiyuddin M, Lam HY, Iyer H, Chen D, Pratt M, Bartha G, Spies N, Losert W, Zook JM, Salit M. Parikh H, et al. Among authors: salit m. BMC Genomics. 2016 Jan 16;17:64. doi: 10.1186/s12864-016-2366-2. BMC Genomics. 2016. PMID: 26772178 Free PMC article.
114 results