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Haplotype-resolved diverse human genomes and integrated analysis of structural variation.
Ebert P, Audano PA, Zhu Q, Rodriguez-Martin B, Porubsky D, Bonder MJ, Sulovari A, Ebler J, Zhou W, Serra Mari R, Yilmaz F, Zhao X, Hsieh P, Lee J, Kumar S, Lin J, Rausch T, Chen Y, Ren J, Santamarina M, Höps W, Ashraf H, Chuang NT, Yang X, Munson KM, Lewis AP, Fairley S, Tallon LJ, Clarke WE, Basile AO, Byrska-Bishop M, Corvelo A, Evani US, Lu TY, Chaisson MJP, Chen J, Li C, Brand H, Wenger AM, Ghareghani M, Harvey WT, Raeder B, Hasenfeld P, Regier AA, Abel HJ, Hall IM, Flicek P, Stegle O, Gerstein MB, Tubio JMC, Mu Z, Li YI, Shi X, Hastie AR, Ye K, Chong Z, Sanders AD, Zody MC, Talkowski ME, Mills RE, Devine SE, Lee C, Korbel JO, Marschall T, Eichler EE. Ebert P, et al. Science. 2021 Apr 2;372(6537):eabf7117. doi: 10.1126/science.abf7117. Epub 2021 Feb 25. Science. 2021. PMID: 33632895 Free PMC article.
High-coverage whole-genome sequencing of the expanded 1000 Genomes Project cohort including 602 trios.
Byrska-Bishop M, Evani US, Zhao X, Basile AO, Abel HJ, Regier AA, Corvelo A, Clarke WE, Musunuri R, Nagulapalli K, Fairley S, Runnels A, Winterkorn L, Lowy E; Human Genome Structural Variation Consortium; Paul Flicek, Germer S, Brand H, Hall IM, Talkowski ME, Narzisi G, Zody MC. Byrska-Bishop M, et al. Cell. 2022 Sep 1;185(18):3426-3440.e19. doi: 10.1016/j.cell.2022.08.004. Cell. 2022. PMID: 36055201 Free PMC article.
Recent ultra-rare inherited variants implicate new autism candidate risk genes.
Wilfert AB, Turner TN, Murali SC, Hsieh P, Sulovari A, Wang T, Coe BP, Guo H, Hoekzema K, Bakken TE, Winterkorn LH, Evani US, Byrska-Bishop M, Earl RK, Bernier RA; SPARK Consortium; Zody MC, Eichler EE. Wilfert AB, et al. Among authors: byrska bishop m. Nat Genet. 2021 Aug;53(8):1125-1134. doi: 10.1038/s41588-021-00899-8. Epub 2021 Jul 26. Nat Genet. 2021. PMID: 34312540 Free PMC article.
Performance assessment of DNA sequencing platforms in the ABRF Next-Generation Sequencing Study.
Foox J, Tighe SW, Nicolet CM, Zook JM, Byrska-Bishop M, Clarke WE, Khayat MM, Mahmoud M, Laaguiby PK, Herbert ZT, Warner D, Grills GS, Jen J, Levy S, Xiang J, Alonso A, Zhao X, Zhang W, Teng F, Zhao Y, Lu H, Schroth GP, Narzisi G, Farmerie W, Sedlazeck FJ, Baldwin DA, Mason CE. Foox J, et al. Among authors: byrska bishop m. Nat Biotechnol. 2021 Sep;39(9):1129-1140. doi: 10.1038/s41587-021-01049-5. Epub 2021 Sep 9. Nat Biotechnol. 2021. PMID: 34504351 Free PMC article.
Optical genome mapping identifies rare structural variations as predisposition factors associated with severe COVID-19.
Sahajpal NS, Jill Lai CY, Hastie A, Mondal AK, Dehkordi SR, van der Made CI, Fedrigo O, Al-Ajli F, Jalnapurkar S, Byrska-Bishop M, Kanagal-Shamanna R, Levy B, Schieck M, Illig T, Bacanu SA, Chou JS, Randolph AG, Rojiani AM, Zody MC, Brownstein CA, Beggs AH, Bafna V, Jarvis ED, Hoischen A, Chaubey A, Kolhe R; COVID19hostgenomesv Consortium. Sahajpal NS, et al. Among authors: byrska bishop m. iScience. 2022 Feb 18;25(2):103760. doi: 10.1016/j.isci.2022.103760. Epub 2022 Jan 10. iScience. 2022. PMID: 35036860 Free PMC article.
PATTERNS IN BIOMEDICAL DATA-HOW DO WE FIND THEM?
Basile AO, Verma A, Byrska-Bishop M, Pendergrass SA, Darabos C, Lester Kirchner H. Basile AO, et al. Pac Symp Biocomput. 2017;22:177-183. doi: 10.1142/9789813207813_0018. Pac Symp Biocomput. 2017. PMID: 27896973 Free article.
Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism.
Padhi EM, Hayeck TJ, Cheng Z, Chatterjee S, Mannion BJ, Byrska-Bishop M, Willems M, Pinson L, Redon S, Benech C, Uguen K, Audebert-Bellanger S, Le Marechal C, Férec C, Efthymiou S, Rahman F, Maqbool S, Maroofian R, Houlden H, Musunuri R, Narzisi G, Abhyankar A, Hunter RD, Akiyama J, Fries LE, Ng JK, Mehinovic E, Stong N, Allen AS, Dickel DE, Bernier RA, Gorkin DU, Pennacchio LA, Zody MC, Turner TN. Padhi EM, et al. Among authors: byrska bishop m. Hum Genomics. 2021 Jul 13;15(1):44. doi: 10.1186/s40246-021-00342-3. Hum Genomics. 2021. PMID: 34256850 Free PMC article.
Author Correction: Performance assessment of DNA sequencing platforms in the ABRF Next-Generation Sequencing Study.
Foox J, Tighe SW, Nicolet CM, Zook JM, Byrska-Bishop M, Clarke WE, Khayat MM, Mahmoud M, Laaguiby PK, Herbert ZT, Warner D, Grills GS, Jen J, Levy S, Xiang J, Alonso A, Zhao X, Zhang W, Teng F, Zhao Y, Lu H, Schroth GP, Narzisi G, Farmerie W, Sedlazeck FJ, Baldwin DA, Mason CE. Foox J, et al. Among authors: byrska bishop m. Nat Biotechnol. 2021 Nov;39(11):1466. doi: 10.1038/s41587-021-01122-z. Nat Biotechnol. 2021. PMID: 34635840 No abstract available.
Human-Disease Phenotype Map Derived from PheWAS across 38,682 Individuals.
Verma A, Bang L, Miller JE, Zhang Y, Lee MTM, Zhang Y, Byrska-Bishop M, Carey DJ, Ritchie MD, Pendergrass SA, Kim D; DiscovEHR Collaboration. Verma A, et al. Am J Hum Genet. 2019 Jan 3;104(1):55-64. doi: 10.1016/j.ajhg.2018.11.006. Epub 2018 Dec 29. Am J Hum Genet. 2019. PMID: 30598166 Free PMC article.
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