{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Selvaraj MS"],"funding":["NHLBI TOPMed fellowship","National Institutes of Health (NIH)"],"pagination":["273"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12418676"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["26(1)"],"pubmed_abstract":["<h4>Background</h4>Rare genetic variation provided by whole genome sequence datasets has been relatively less explored for its contributions to human traits. Meta-analysis of sequencing data offers advantages by integrating larger sample sizes from diverse cohorts, thereby increasing the likelihood of discovering novel insights into complex traits. Furthermore, emerging methods in genome-wide rare variant association testing further improve power and interpretability.<h4>Results</h4>Here, we conduct the largest meta-analysis of whole genome sequencing for low-density lipoprotein cholesterol (LDL-C), a therapeutic target for coronary artery disease, analyzing data from 246 K participants and integrating 1.23B variants from the UK Biobank and the Trans-Omics for Precision Medicine (TOPMed) p"],"journal":["Genome biology"],"pubmed_title":["Whole genome sequence analysis of low-density lipoprotein cholesterol across 246 K individuals."],"pmcid":["PMC12418676"],"funding_grant_id":["R01HL142711","75N92021F00229"],"pubmed_authors":["Ekunwe L","Bowden DW","Laurie C","Manning A","Glahn D","Boueiz AE","Salzberg S","Sylvia J","Sandow K","Nekhai S","Graham Barr R","Tsai MY","Walker T","Xu H","Chaffin M","Russell P","Gass M","Chung RH","Levy D","Farek J","Hwu CM","Preuss M","Tishkoff S","Carrier J","Chuang LM","Reed R","Ziv E","Avramopoulos D","Cornell E","Yarden R","Sotoodehnia N","Yu K","May S","Mathai S","de Las Fuentes L","Papanicolaou G","Storm G","Heard-Costa N","de Andrade M","Smith AV","Broome J","Taylor KD","Wong Q","Hong E","Almasy L","Chung M","Roden D","Runnels A","Manson J","Regan E","Snyder M","Zhu X","Nessner C","McFarland S","Nadkarni G","Postupaka D","Curran JE","Davis C","Carlson JC","Broeckel U","Franceschini N","Gu CC","Abe N","Salvi S","Clish C","Tracy R","Lunetta K","Vrieze S","Kral BG","Gladwin M","Peralta JM","Devine S","Rajendran M","Conomos M","Phillips LS","Liu S","Weir B","Liu Y","Meigs J","Johnson A","Pollin T","Ruczinski I","David S","Johnson C","Arnett DK","Perez M","Blue N","Erzurum S","Weinstock J","Stilp AM","Hernandez R","Hou L","Flickinger M","Guan Y","Choi SH","Winterkorn L","Huston H","Harris D","Anderson P","Montasser ME","Beitelshees A","Gelb B","Magalang U","Mathias R","Guo X","Szpiro A","Nelson SC","Johnsen J","Tong C","Damrauer SM","Reupena M'S","Mychaleckyj JC","Ardlie K","Alonso A","Sung YJ","Zoellner S","Levine D","LeBoff M","McGarvey S","Herrington D","Hixson J","Kimoff J","Frazar C","Ryan K","Kramer H","Johnston R","Kalyani RR","Yanek LR","VandeHaar P","Blangero J","Graff M","Han Y","Walts A","Viali S","Momin Z","Marton M","Seidman C","Sabino EC","Chang C","Casella J","Geiger H","Reiner AP","Selvaraj MS","Seidman S","Montgomery C","Kenny E","Curtis J","Threlkeld M","Hobbs B","Custer B","Kooperberg C","Castaldi P","Carson AP","Fu M","de Vries PS","Grine D","Silverman E","Konkle B","Minear M","Min N","Watson K","Haessler J","Rafaels N","DeBaun M","Gabriel S","Lubitz S","Carey V","Casaburi R","Comhair S","Freedman BI","Konigsberg IR","Series F","Tinker L","Fingerlin T","Gao Y","Manichaikul AW","Lange LA","Aslibekyan S","Duggirala R","Kraus WE","Burchard E","Gao S","Heavner B","Zekavat SM","Becker L","Mignot E","Khan Z","Casas Romero JP","Tiwari H","Schwartz D","Cho M","Wang FF","Deka R","McHugh C","Perry J","Graw S","Rao DC","Khan A","LeFaive J","Smith J","Mahaney M","Gross C","Smith N","Cade BE","Benos T","Smith T","Mei H","DeMeo D","Ayas N","Becker D","Gan W","Robillard R","North KE","Cupples LA","Psaty BM","Kardia SLR","Metcalf G","Darbar D","Williams K","Bezerra M","Lin X","Taylor S","Taylor M","Snively B","Pack A","Geraci M","Sheehan V","Hall M","Kang HM","Post W","He J","Gignoux C","Jain D","Fulton L","Muzny D","Williams LK","Chavan S","Shoemaker MB","Hu J","Lin H","Shah SH","Hersh C","Salimi S","Williams S","Kelly S","Zhao W","Naseri T","Ruuska S","Loos RJF","Ramachandran VS","Mestroni L","Rasmussen-Torvik L","Tirschwell D","Minster RL","Aguet F","Make B","Ghosh A","Hokanson J","Lange E","Lange C","Reeves C","Hoth K","Martin LW","Meyers DA","Bis JC","Assimes T","Auer P","Hidalgo BA","Barnard J","Mitchell BD","Rotter JI","Crandall C","Cardwell J","Gerszten R","Rich SS","O'Connor T","McNeil B","Nickerson D","Vaidya D","Peters U","Watt J","Gupta N","Abecasis G","Lewis J","Robine N","Li C","Barnes K","Kwee LC","Goring H","Parker C","Farber C","Becker JP","Li X","Li Y","Li Z","Jones K","Kelly TN","Okwuonu G","Fornage M","Kaplan RC","Neltner B","Viaud-Martinez KA","Chen BJ","Sherman SL","Wessel J","Roselli C","Arking D","Daya M","Haidermota S","Wallace R","Ashley-Koch A","Bielak L","Menon V","Beer R","Natarajan P","Willer C","Ochs-Balcom H","Jackson R","Lee WJ","Chasman D","Chang YC","Thornton TA","Hanly P","Luo J","Zhang Y","NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium","Saleheen D","Zhao SX","Van Buren E","McArdle P","Albert C","Emery L","Rice K","Wilson J","Morrison AC","Sheu WH","Pleiness J","Balasubramanian A","Hawley NL","Telen M","Jaquish C","Raffield L","O'Connell JR","Blackwell T","Sankaran VG","Qiao D","Smit RAJ","Ellinor PT","Taliun D","Redline S","Beck G","Chen WM","Sciurba F","Dutcher SK","Shetty A","Bustamante C","Schwander K","Irvin R","Irvin MR","Lee S","Kessler M","Ratan A","Lee J","Correa A","Santibanez J","Van Den Berg D","Crapo J","Dugan-Perez S","Tang H","Eaton C","Barron-Casella E","Qin Z","Hsiung CA","Carty C","Smith JA","Hornsby W","Skomro R","Taub M","Silver B","Su JL","Palmer ND","Hung YJ","Fullerton SM","Kim R","Wilson C","Kim W","Gibbs R","Wu J","Nkechinyere O","Dinh H","Naik R","Zody M","Boerwinkle E","Wu B","Wang H","Brown D","Wang J","Mikulla J","Qasba P","Judy R","Beaty T","Peloso GM","Barwick L","Wang Y","Wang Z","Yang I","Applebaum-Bowden D","Ament S","Paik DT","Anugu P","McGoldrick D","Weeks DE","Brody JA","Damcott C","Durda JP","O'Connell J","Peyser PA","Gogarten S","Kinney G","Rader DJ","Smoller S","Weng LC","Pankow J","Buth E","Heckbert S","Gong DW","Boorgula MP","Sofer T","Weiss ST","Germer S","Moll M","Bunting K","McDonald ML","Doddapaneni H","Duan Q","Benjamin E","Streeten E","Gray KJ","Chen YI"],"additional_accession":[]},"is_claimable":false,"name":"Whole genome sequence analysis of low-density lipoprotein cholesterol across 246 K individuals.","description":"<h4>Background</h4>Rare genetic variation provided by whole genome sequence datasets has been relatively less explored for its contributions to human traits. Meta-analysis of sequencing data offers advantages by integrating larger sample sizes from diverse cohorts, thereby increasing the likelihood of discovering novel insights into complex traits. Furthermore, emerging methods in genome-wide rare variant association testing further improve power and interpretability.<h4>Results</h4>Here, we conduct the largest meta-analysis of whole genome sequencing for low-density lipoprotein cholesterol (LDL-C), a therapeutic target for coronary artery disease, analyzing data from 246 K participants and integrating 1.23B variants from the UK Biobank and the Trans-Omics for Precision Medicine (TOPMed) p","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Sep","modification":"2026-06-02T17:44:18.162Z","creation":"2026-05-27T03:07:30.82Z"},"accession":"S-EPMC12418676","cross_references":{"pubmed":["40926209"],"doi":["10.1186/s13059-025-03698-0"]}}