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Integration of transcriptomics and long-read genomics prioritizes structural variants in rare disease.
Jensen TD, Ni B, Reuter CM, Gorzynski JE, Fazal S, Bonner D, Ungar RA, Goddard PC, Raja A, Ashley EA, Bernstein JA, Zuchner S; Undiagnosed Diseases Network; Greicius MD, Montgomery SB, Schatz MC, Wheeler MT, Battle A. Jensen TD, et al. Among authors: ni b. medRxiv [Preprint]. 2024 Mar 26:2024.03.22.24304565. doi: 10.1101/2024.03.22.24304565. medRxiv. 2024. PMID: 38585781 Free PMC article. Preprint.
The functional impact of rare variation across the regulatory cascade.
Li T, Ferraro N, Strober BJ, Aguet F, Kasela S, Arvanitis M, Ni B, Wiel L, Hershberg E, Ardlie K, Arking DE, Beer RL, Brody J, Blackwell TW, Clish C, Gabriel S, Gerszten R, Guo X, Gupta N, Johnson WC, Lappalainen T, Lin HJ, Liu Y, Nickerson DA, Papanicolaou G, Pritchard JK, Qasba P, Shojaie A, Smith J, Sotoodehnia N, Taylor KD, Tracy RP, Van Den Berg D, Wheeler MT, Rich SS, Rotter JI, Battle A, Montgomery SB. Li T, et al. Among authors: ni b. Cell Genom. 2023 Sep 6;3(10):100401. doi: 10.1016/j.xgen.2023.100401. eCollection 2023 Oct 11. Cell Genom. 2023. PMID: 37868038 Free PMC article.
Benchmarking challenging small variants with linked and long reads.
Wagner J, Olson ND, Harris L, Khan Z, Farek J, Mahmoud M, Stankovic A, Kovacevic V, Yoo B, Miller N, Rosenfeld JA, Ni B, Zarate S, Kirsche M, Aganezov S, Schatz MC, Narzisi G, Byrska-Bishop M, Clarke W, Evani US, Markello C, Shafin K, Zhou X, Sidow A, Bansal V, Ebert P, Marschall T, Lansdorp P, Hanlon V, Mattsson CA, Barrio AM, Fiddes IT, Xiao C, Fungtammasan A, Chin CS, Wenger AM, Rowell WJ, Sedlazeck FJ, Carroll A, Salit M, Zook JM. Wagner J, et al. Among authors: ni b. Cell Genom. 2022 May;2(5):100128. doi: 10.1016/j.xgen.2022.100128. Cell Genom. 2022. PMID: 36452119 Free PMC article.
Validation of human telomere length multi-ancestry meta-analysis association signals identifies POP5 and KBTBD6 as human telomere length regulation genes.
Keener R, Chhetri SB, Connelly CJ, Taub MA, Conomos MP, Weinstock J, Ni B, Strober B, Aslibekyan S, Auer PL, Barwick L, Becker LC, Blangero J, Bleecker ER, Brody JA, Cade BE, Celedon JC, Chang YC, Cupples LA, Custer B, Freedman BI, Gladwin MT, Heckbert SR, Hou L, Irvin MR, Isasi CR, Johnsen JM, Kenny EE, Kooperberg C, Minster RL, Naseri T, Viali S, Nekhai S, Pankratz N, Peyser PA, Taylor KD, Telen MJ, Wu B, Yanek LR, Yang IV, Albert C, Arnett DK, Ashley-Koch AE, Barnes KC, Bis JC, Blackwell TW, Boerwinkle E, Burchard EG, Carson AP, Chen Z, Chen YI, Darbar D, de Andrade M, Ellinor PT, Fornage M, Gelb BD, Gilliland FD, He J, Islam T, Kaab S, Kardia SLR, Kelly S, Konkle BA, Kumar R, Loos RJF, Martinez FD, McGarvey ST, Meyers DA, Mitchell BD, Montgomery CG, North KE, Palmer ND, Peralta JM, Raby BA, Redline S, Rich SS, Roden D, Rotter JI, Ruczinski I, Schwartz D, Sciurba F, Shoemaker MB, Silverman EK, Sinner MF, Smith NL, Smith AV, Tiwari HK, Vasan RS, Weiss ST, Williams LK, Zhang Y, Ziv E, Raffield LM, Reiner AP; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; TOPMed Hematology and Hemostasis Working Group; TOPMed Structural Variation Working Group; Arvanitis M, G… See abstract for full author list ➔ Keener R, et al. Among authors: ni b. Nat Commun. 2024 May 24;15(1):4417. doi: 10.1038/s41467-024-48394-y. Nat Commun. 2024. PMID: 38789417 Free PMC article.
1,498 results