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Page 1
Interaction molecular QTL mapping discovers cellular and environmental modifiers of genetic regulatory effects.
Kasela S, Aguet F, Kim-Hellmuth S, Brown BC, Nachun DC, Tracy RP, Durda P, Liu Y, Taylor KD, Craig Johnson W, Berg DVD, Gabriel S, Gupta N, Smith JD, Blackwell TW, Rotter JI, Ardlie KG, Manichaikul A, Rich SS, Graham Barr R, Lappalainen T. Kasela S, et al. Among authors: blackwell tw. bioRxiv [Preprint]. 2023 Jun 29:2023.06.26.546528. doi: 10.1101/2023.06.26.546528. bioRxiv. 2023. PMID: 37425716 Free PMC article. Updated. Preprint.
Proteome-Wide Association Studies for Blood Lipids and Comparison with Transcriptome-Wide Association Studies.
Zhang D, Gao B, Feng Q, Manichaikul A, Peloso GM, Tracy RP, Durda P, Taylor KD, Liu Y, Johnson WC, Gabriel S, Gupta N, Smith JD, Aguet F, Ardlie KG, Blackwell TW, Gerszten RE, Rich SS, Rotter JI, Scott LJ, Zhou X, Lee S. Zhang D, et al. Among authors: blackwell tw. bioRxiv [Preprint]. 2023 Aug 21:2023.08.17.553749. doi: 10.1101/2023.08.17.553749. bioRxiv. 2023. PMID: 37662416 Free PMC article. Preprint.
Interaction molecular QTL mapping discovers cellular and environmental modifiers of genetic regulatory effects.
Kasela S, Aguet F, Kim-Hellmuth S, Brown BC, Nachun DC, Tracy RP, Durda P, Liu Y, Taylor KD, Johnson WC, Van Den Berg D, Gabriel S, Gupta N, Smith JD, Blackwell TW, Rotter JI, Ardlie KG, Manichaikul A, Rich SS, Barr RG, Lappalainen T. Kasela S, et al. Among authors: blackwell tw. Am J Hum Genet. 2024 Jan 4;111(1):133-149. doi: 10.1016/j.ajhg.2023.11.013. Am J Hum Genet. 2024. PMID: 38181730
Genomic and phenotypic correlates of mosaic loss of chromosome Y in blood.
Jakubek YA, Ma X, Stilp AM, Yu F, Bacon J, Wong JW, Aguet F, Ardlie K, Arnett D, Barnes K, Bis JC, Blackwell T, Becker LC, Boerwinkle E, Bowler RP, Budoff MJ, Carson AP, Chen J, Cho MH, Coresh J, Cox N, de Vries PS, DeMeo DL, Fardo DW, Fornage M, Guo X, Hall ME, Heard-Costa N, Hidalgo B, Irvin MR, Johnson AD, Kenny EE, Levy D, Li Y, Lima JA, Liu Y, Loos RJF, Machiela MJ, Mathias RA, Mitchell BD, Murabito J, Mychaleckyj JC, North K, Orchard P, Parker SC, Pershad Y, Peyser PA, Pratte KA, Psaty BM, Raffield LM, Redline S, Rich SS, Rotter JI, Shah SJ, Smith JA, Smith AP, Smith A, Taub M, Tiwari HK, Tracy R, Tuftin B, Bick AG, Sankaran VG, Reiner AP, Scheet P, Auer PL. Jakubek YA, et al. medRxiv [Preprint]. 2024 Apr 19:2024.04.16.24305851. doi: 10.1101/2024.04.16.24305851. medRxiv. 2024. PMID: 38699360 Free PMC article. Preprint.
The variant call format and VCFtools.
Danecek P, Auton A, Abecasis G, Albers CA, Banks E, DePristo MA, Handsaker RE, Lunter G, Marth GT, Sherry ST, McVean G, Durbin R; 1000 Genomes Project Analysis Group. Danecek P, et al. Bioinformatics. 2011 Aug 1;27(15):2156-8. doi: 10.1093/bioinformatics/btr330. Epub 2011 Jun 7. Bioinformatics. 2011. PMID: 21653522 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: blackwell tw. Nat Commun. 2024 May 24;15(1):4417. doi: 10.1038/s41467-024-48394-y. Nat Commun. 2024. PMID: 38789417 Free PMC article.
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: blackwell tw. 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.
Multi-ancestry epigenome-wide analyses identify methylated sites associated with aortic augmentation index in TOPMed MESA.
Hu X, Logan JG, Kwon Y, Lima JAC, Jacobs DR, Duprez D, Brumback L, Taylor KD, Durda P, Johnson WC, Cornell E, Guo X, Liu Y, Tracy RP, Blackwell TW, Papanicolaou G, Mitchell GF, Rich SS, Rotter JI, Van Den Berg DJ, Chirinos JA, Hughes TM, Garrett-Bakelman FE, Manichaikul A. Hu X, et al. Among authors: blackwell tw. Sci Rep. 2023 Oct 17;13(1):17680. doi: 10.1038/s41598-023-44806-z. Sci Rep. 2023. PMID: 37848499 Free PMC article.
Association Between Whole Blood-Derived Mitochondrial DNA Copy Number, Low-Density Lipoprotein Cholesterol, and Cardiovascular Disease Risk.
Liu X, Sun X, Zhang Y, Jiang W, Lai M, Wiggins KL, Raffield LM, Bielak LF, Zhao W, Pitsillides A, Haessler J, Zheng Y, Blackwell TW, Yao J, Guo X, Qian Y, Thyagarajan B, Pankratz N, Rich SS, Taylor KD, Peyser PA, Heckbert SR, Seshadri S, Boerwinkle E, Grove ML, Larson NB, Smith JA, Vasan RS, Fitzpatrick AL, Fornage M, Ding J, Carson AP, Abecasis G, Dupuis J, Reiner A, Kooperberg C, Hou L, Psaty BM, Wilson JG, Levy D, Rotter JI, Bis JC; TOPMed mtDNA Working Group in NHLBI Trans‐Omics for Precision Medicine (TOPMed) Consortium; Satizabal CL, Arking DE, Liu C. Liu X, et al. Among authors: blackwell tw. J Am Heart Assoc. 2023 Oct 17;12(20):e029090. doi: 10.1161/JAHA.122.029090. Epub 2023 Oct 7. J Am Heart Assoc. 2023. PMID: 37804200 Free PMC article.
Multiset correlation and factor analysis enables exploration of multi-omics data.
Brown BC, Wang C, Kasela S, Aguet F, Nachun DC, Taylor KD, Tracy RP, Durda P, Liu Y, Johnson WC, Van Den Berg D, Gupta N, Gabriel S, Smith JD, Gerzsten R, Clish C, Wong Q, Papanicolau G, Blackwell TW, Rotter JI, Rich SS, Barr RG, Ardlie KG, Knowles DA, Lappalainen T. Brown BC, et al. Among authors: blackwell tw. Cell Genom. 2023 Jul 10;3(8):100359. doi: 10.1016/j.xgen.2023.100359. eCollection 2023 Aug 9. Cell Genom. 2023. PMID: 37601969 Free PMC article.
50 results