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104 results

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Page 1
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: zook jm. BMC Genomics. 2016 Jan 16;17:64. doi: 10.1186/s12864-016-2366-2. BMC Genomics. 2016. PMID: 26772178 Free PMC article.
Benchmarking of small and large variants across tandem repeats.
English A, Dolzhenko E, Jam HZ, Mckenzie S, Olson ND, De Coster W, Park J, Gu B, Wagner J, Eberle MA, Gymrek M, Chaisson MJP, Zook JM, Sedlazeck FJ. English A, et al. Among authors: zook jm. bioRxiv [Preprint]. 2023 Nov 1:2023.10.29.564632. doi: 10.1101/2023.10.29.564632. bioRxiv. 2023. Update in: Nat Biotechnol. 2024 Apr 26. doi: 10.1038/s41587-024-02225-z PMID: 37961319 Free PMC article. Updated. Preprint.
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: zook jm. 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. 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: zook jm. Bioinformatics. 2015 Dec 15;31(24):3994-6. doi: 10.1093/bioinformatics/btv478. Epub 2015 Aug 18. Bioinformatics. 2015. PMID: 26286809
Medical implications of technical accuracy in genome sequencing.
Goldfeder RL, Priest JR, Zook JM, Grove ME, Waggott D, Wheeler MT, Salit M, Ashley EA. Goldfeder RL, et al. Among authors: zook jm. Genome Med. 2016 Mar 2;8(1):24. doi: 10.1186/s13073-016-0269-0. Genome Med. 2016. PMID: 26932475 Free PMC article.
104 results