Publications

Export 2205 results:
2023
Kolmogorov M, Billingsley KJ, Mastoras M, Meredith M, Monlong J, Lorig-Roach R, Asri M, Jerez PAlvarez, Malik L, Dewan R, Reed X, Genner RM, Daida K, Behera S, Shafin K, Pesout T, Prabakaran J, Carnevali P, Yang J, Rhie A, Scholz SW, Traynor BJ, Miga KH, Jain M, Timp W, Phillippy AM, Chaisson M, Sedlazeck FJ, Blauwendraat C, Paten B. Scalable Nanopore sequencing of human genomes provides a comprehensive view of haplotype-resolved variation and methylation. Nat Methods. 2023 ;20(10):1483-1492.
Kolmogorov M, Billingsley KJ, Mastoras M, Meredith M, Monlong J, Lorig-Roach R, Asri M, Jerez PAlvarez, Malik L, Dewan R, Reed X, Genner RM, Daida K, Behera S, Shafin K, Pesout T, Prabakaran J, Carnevali P, Yang J, Rhie A, Scholz SW, Traynor BJ, Miga KH, Jain M, Timp W, Phillippy AM, Chaisson M, Sedlazeck FJ, Blauwendraat C, Paten B. Scalable Nanopore sequencing of human genomes provides a comprehensive view of haplotype-resolved variation and methylation. bioRxiv. 2023 ;.
Raja KKumar Boll, Yeung K, Shim Y-K, Li Y, Chen R, Mardon G. A single cell genomics atlas of the Drosophila larval eye reveals distinct photoreceptor developmental timelines. Nat Commun. 2023 ;14(1):7205.
Wang J, Cheng X, Liang Q, Owen LA, Lu J, Zheng Y, Wang M, Chen S, DeAngelis MM, Li Y, Chen R. Single-cell multiomics of the human retina reveals hierarchical transcription factor collaboration in mediating cell type-specific effects of genetic variants on gene regulation. Genome Biol. 2023 ;24(1):269.
Harris RA, McAllister JM, Strauss JF. Single-Cell RNA-Seq Identifies Pathways and Genes Contributing to the Hyperandrogenemia Associated with Polycystic Ovary Syndrome. Int J Mol Sci. 2023 ;24(13).
Kalef-Ezra E, Turan ZGozde, Perez-Rodriguez D, Bomann I, Behera S, Morley C, Scholz SW, Jaunmuktane Z, Demeulemeester J, Sedlazeck FJ, Proukakis C. Single-cell somatic copy number variants in brain using different amplification methods and reference genomes. bioRxiv. 2023 ;.
Dou J, Tan Y, Kock KHong, Wang J, Cheng X, Tan LMin, Han KYeon, Hon C-C, Park W-Y, Shin JW, Jin H, Wang Y, Chen H, Ding L, Prabhakar S, Navin N, Chen R, Chen K. Single-nucleotide variant calling in single-cell sequencing data with Monopogen. Nat Biotechnol. 2023 ;.
Bogaert E, Garde A, Gautier T, Rooney K, Duffourd Y, LeBlanc P, van Reempts E, Mau-Them FTran, Wentzensen IM, Au KSing, Richardson K, Northrup H, Gatinois V, Geneviève D, Louie RJ, Lyons MJ, Laulund LWalentin, Brasch-Andersen C, Juul TMaxel, It FEl, Marle N, Callier P, Relator R, Haghshenas S, McConkey H, Kerkhof J, Cesario C, Novelli A, Brunetti-Pierri N, Pinelli M, Pennamen P, Naudion S, Legendre M, Courdier C, Trimouille A, Fenzy MDoco, Pais L, Yeung A, Nugent K, Roeder ER, Mitani T, Posey JE, Calame D, Yonath H, Rosenfeld JA, Musante L, Faletra F, Montanari F, Sartor G, Vancini A, Seri M, Besmond C, Poirier K, Hubert L, Hemelsoet D, Munnich A, Lupski JR, Philippe C, Thauvin-Robinet C, Faivre L, Sadikovic B, Govin J, Dermaut B, Vitobello A. SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability. Am J Hum Genet. 2023 ;110(5):790-808.
Li X, Chen H, Selvaraj MSunitha, Van Buren E, Zhou H, Wang Y, Sun R, McCaw ZR, Yu Z, Arnett DK, Bis JC, Blangero J, Boerwinkle E, Bowden DW, Brody JA, Cade BE, Carson AP, Carlson JC, Chami N, Chen Y-DIda, Curran JE, de Vries PS, Fornage M, Franceschini N, Freedman BI, Gu C, Heard-Costa NL, He J, Hou L, Hung Y-J, Irvin MR, Kaplan RC, Kardia SLR, Kelly T, Konigsberg I, Kooperberg C, Kral BG, Li C, Loos RJF, Mahaney MC, Martin LW, Mathias RA, Minster RL, Mitchell BD, Montasser ME, Morrison AC, Palmer ND, Peyser PA, Psaty BM, Raffield LM, Redline S, Reiner AP, Rich SS, Sitlani CM, Smith JA, Taylor KD, Tiwari H, Vasan RS, Wang Z, Yanek LR, Yu B, Rice KM, Rotter JI, Peloso GM, Natarajan P, Li Z, Liu Z, Lin X. A statistical framework for powerful multi-trait rare variant analysis in large-scale whole-genome sequencing studies. bioRxiv. 2023 ;.
Wang N, Yu B, Jun G, Qi Q, Durazo-Arvizu RA, Lindström S, Morrison AC, Kaplan RC, Boerwinkle E, Chen H. StocSum: stochastic summary statistics for whole genome sequencing studies. bioRxiv. 2023 ;.
Paulin LF, Raveendran M, Harris RA, Rogers J, von Haeseler A, Sedlazeck FJ. SVhound: detection of regions that harbor yet undetected structural variation. BMC Bioinformatics. 2023 ;24(1):23.
Wen S, Wang M, Qian X, Li Y, Wang K, Choi J, Pennesi ME, Yang P, Marra M, Koenekoop RK, Lopez I, Matynia A, Gorin M, Sui R, Yao F, Goetz K, Porto FBelga Otto, Chen R. Systematic assessment of the contribution of structural variants to inherited retinal diseases. Hum Mol Genet. 2023 ;32(12):2005-2015.
Thomas D, Garate D, Fu S, Bashir A, Moss N, Nair M. Telehealth reform post-public health emergency: crucial next steps. Proc (Bayl Univ Med Cent). 2023 ;36(2):269-271.
Fair D, Maese L, Chi Y-Y, Li M, Hawkins DS, Venkatramani R, Rudzinski E, Parham D, Teot L, Malkin D, Plon SE, Li H, Sabo A, Lupo PJ, Schiffman JD. TP53 germline pathogenic variant frequency in anaplastic rhabdomyosarcoma: A Children's Oncology Group report. Pediatr Blood Cancer. 2023 ;:e30413.
Schlosser P, Zhang J, Liu H, Surapaneni AL, Rhee EP, Arking DE, Yu B, Boerwinkle E, Welling PA, Chatterjee N, Susztak K, Coresh J, Grams ME. Transcriptome- and proteome-wide association studies nominate determinants of kidney function and damage. Genome Biol. 2023 ;24(1):150.
Hasbani NR, Westerman KE, Kwak SHeon, Chen H, Li X, Di Corpo D, Wessel J, Bis JC, Sarnowski C, Wu P, Bielak LF, Guo X, Heard-Costa N, Kinney GL, Mahaney MC, Montasser ME, Palmer ND, Raffield LM, Terry JG, Yanek LR, Bon J, Bowden DW, Brody JA, Duggirala R, Jacobs DR, Kalyani RR, Lange LA, Mitchell BD, Smith JA, Taylor KD, Carson AP, Curran JE, Fornage M, Freedman BI, Gabriel S, Gibbs RA, Gupta N, Kardia SLR, Kral BG, Momin Z, Newman AB, Post WS, Viaud-Martinez KA, Young KA, Becker LC, Bertoni AG, Blangero J, Carr JJ, Pratte K, Psaty BM, Rich SS, Wu JC, Malhotra R, Peyser PA, Morrison AC, Vasan RS, Lin X, Rotter JI, Meigs JB, Manning AK, de Vries PS. Type 2 Diabetes Modifies the Association of CAD Genomic Risk Variants With Subclinical Atherosclerosis. Circ Genom Precis Med. 2023 ;16(6):e004176.
Monsivais D, Parks SE, Chandrashekar DS, Varambally S, Creighton CJ. Using cancer proteomics data to identify gene candidates for therapeutic targeting. Oncotarget. 2023 ;14:399-412.
Olson ND, Wagner J, Dwarshuis N, Miga KH, Sedlazeck FJ, Salit M, Zook JM. Variant calling and benchmarking in an era of complete human genome sequences. Nat Rev Genet. 2023 ;24(7):464-483.
Alge JL, Bekheirnia N, Willcockson AR, Qin X, Scherer SE, Braun MC, Bekheirnia MReza. Variants in genes coding for collagen type IV α-chains are frequent causes of persistent, isolated hematuria during childhood. Pediatr Nephrol. 2023 ;38(3):687-695.
Krannich T, Sarrias MHerrera, Ben Aribi H, Shokrof M, Iacoangeli A, Al-Chalabi A, Sedlazeck FJ, Busby B, Khleifat AAl. VariantSurvival: a tool to identify genotype-treatment response. Front Bioinform. 2023 ;3:1277923.
Harris RA, Raveendran M, Warren W, LaDeana HW, Tomlinson C, Graves-Lindsay T, Green RE, Schmidt JK, Colwell JC, Makulec AT, Cole SA, Cheeseman IH, Ross CN, Capuano S, Eichler EE, Levine JE, Rogers J. Whole Genome Analysis of SNV and Indel Polymorphism in Common Marmosets (). Genes (Basel). 2023 ;14(12).
Seyerle AA, Laurie CA, Coombes BJ, Jain D, Conomos MP, Brody J, Chen M-H, Gogarten SM, Beutel KM, Gupta N, Heckbert SR, Jackson RD, Johnson AD, Ko D, Manson JAE, McKnight B, Metcalf GA, Morrison AC, Reiner AP, Sofer T, Tang W, Wiggins KL, Boerwinkle E, de Andrade M, Gabriel SB, Gibbs RA, Laurie CC, Psaty BM, Vasan RS, Rice K, Kooperberg C, Pankow JS, Smith NL, Pankratz N. Whole Genome Analysis of Venous Thromboembolism: the Trans-Omics for Precision Medicine Program. Circ Genom Precis Med. 2023 ;16(2):e003532.
Jiang M-Z, Gaynor SM, Li X, Van Buren E, Stilp A, Buth E, Wang FFei, Manansala R, Gogarten SM, Li Z, Polfus LM, Salimi S, Bis JC, Pankratz N, Yanek LR, Durda P, Tracy RP, Rich SS, Rotter JI, Mitchell BD, Lewis JP, Psaty BM, Pratte KA, Silverman EK, Kaplan RC, Avery C, North K, Mathias RA, Faraday N, Lin H, Wang B, Carson AP, Norwood AF, Gibbs RA, Kooperberg C, Lundin J, Peters U, Dupuis J, Hou L, Fornage M, Benjamin EJ, Reiner AP, Bowler RP, Lin X, Auer PL, Raffield LM. Whole Genome Sequencing Based Analysis of Inflammation Biomarkers in the Trans-Omics for Precision Medicine (TOPMed) Consortium. bioRxiv. 2023 ;.
Pan Y, Sun X, Mi X, Huang Z, Hsu Y, Hixson JE, Munzy D, Metcalf GA, Franceschini N, Tin A, Köttgen A, Francis M, Brody JA, Kestenbaum B, Sitlani CM, Mychaleckyj JC, Kramer H, Lange LA, Guo X, Hwang S-J, Irvin MR, Smith JA, Yanek LR, Vaidya D, Chen Y-DIda, Fornage M, Lloyd-Jones DM, Hou L, Mathias RA, Mitchell BD, Peyser PA, Kardia SLR, Arnett DK, Correa A, Raffield LM, Vasan RS, L Cupple A, Levy D, Kaplan RC, North KE, Rotter JI, Kooperberg C, Reiner AP, Psaty BM, Tracy RP, Gibbs RA, Morrison AC, Feldman H, Boerwinkle E, He J, Kelly TN. Whole-exome sequencing study identifies four novel gene loci associated with diabetic kidney disease. Hum Mol Genet. 2023 ;32(6):1048-1060.
de Vries PS, Conomos MP, Singh K, Nicholson CJ, Jain D, Hasbani NR, Jiang W, Lee S, Cardenas CLLino, Lutz SM, Wong D, Guo X, Yao J, Young EP, Tcheandjieu C, Hilliard AT, Bis JC, Bielak LF, Brown MR, Musharoff S, Clarke SL, Terry JG, Palmer ND, Yanek LR, Xu H, Heard-Costa N, Wessel J, Selvaraj MSunitha, Li RH, Sun X, Turner AW, Stilp AM, Khan A, Newman AB, Rasheed A, Freedman BI, Kral BG, McHugh CP, Hodonsky C, Saleheen D, Herrington DM, Jacobs DR, Nickerson DA, Boerwinkle E, Wang FFei, Heiss G, Jun G, Kinney GL, Sigurslid HH, Doddapaneni H, Hall IM, Bensenor IM, Broome J, Crapo JD, Wilson JG, Smith JA, Blangero J, Vargas JD, Mosquera JVerdezoto, Smith JD, Viaud-Martinez KA, Ryan KA, Young KA, Taylor KD, Lange LA, Emery LS, Bittencourt MS, Budoff MJ, Montasser ME, Yu M, Mahaney MC, Mahamdeh MS, Fornage M, Franceschini N, Lotufo PA, Natarajan P, Wong Q, Mathias RA, Gibbs RA, Do R, Mehran R, Tracy RP, Kim RW, Nelson SC, Damrauer SM, Kardia SLR, Rich SS, Fuster V, Napolioni V, Zhao W, Tian W, Yin X, Min Y-I, Manning AK, Peloso G, Kelly TN, O'Donnell CJ, Morrison AC, Curran JE, Zapol WM, Bowden DW, Becker LC, Correa A, Mitchell BD, Psaty BM, Carr JJeffrey, Pereira AC, Assimes TL, Stitziel NO, Hokanson JE, Laurie CA, Rotter JI, Vasan RS, Post WS, Peyser PA, Miller CL, Malhotra R. Whole-genome sequencing uncovers two loci for coronary artery calcification and identifies ARSE as a regulator of vascular calcification. Nat Cardiovasc Res. 2023 ;2(12):1159-1172.