Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Ethnic differences in ApoC-III concentration and the risk of cardiovascular disease: No evidence for the cardioprotective role of rare/loss of function APOC3 variants in non-Europeans.
American Heart Journal Plus : Cardiology Research And Practice
Rout, Madhusmita M; Lerner, Megan M; Blackett, Piers R PR; Peyton, Marvin D MD; Stavrakis, Stavros S; Sidorov, Evgeny E; Sanghera, Dharambir K DK
Analysis of Rare Variants in Genes Related to Lipid Metabolism in Patients with Familial Hypercholesterolemia in Western Siberia (Russia).
Journal Of Personalized Medicine
Shakhtshneider, Elena E; Ivanoshchuk, Dinara D; Timoshchenko, Olga O; Orlov, Pavel P; Semaev, Sergey S; Valeev, Emil E; Goonko, Andrew A; Ladygina, Nataliya N; Voevoda, Mikhail M
Targeted Sequencing of 242 Clinically Important Genes in the Russian Population From the Ivanovo Region.
Frontiers In Genetics
Ramensky, Vasily E VE; Ershova, Alexandra I AI; Zaicenoka, Marija M; Kiseleva, Anna V AV; Zharikova, Anastasia A AA; Vyatkin, Yuri V YV; Sotnikova, Evgeniia A EA; Efimova, Irina A IA; Divashuk, Mikhail G MG; Kurilova, Olga V OV; Skirko, Olga P OP; Muromtseva, Galina A GA; Belova, Olga A OA; Rachkova, Svetlana A SA; Pokrovskaya, Maria S MS; Shalnova, Svetlana A SA; Meshkov, Alexey N AN; Drapkina, Oxana M OM
Publication Date: 2021
Variant appearance in text: APOC3: 55+1G>A; rs138326449
APOC3 genetic variation, serum triglycerides, and risk of coronary artery disease in Asian Indians, Europeans, and other ethnic groups.
Lipids In Health And Disease
Goyal, Shiwali S; Tanigawa, Yosuke Y; Zhang, Weihua W; Chai, Jin-Fang JF; Almeida, Marcio M; Sim, Xueling X; Lerner, Megan M; Chainakul, Juliane J; Ramiu, Jonathan Garcia JG; Seraphin, Chanel C; Apple, Blair B; Vaughan, April A; Muniu, James J; Peralta, Juan J; Lehman, Donna M DM; Ralhan, Sarju S; Wander, Gurpreet S GS; Singh, Jai Rup JR; Mehra, Narinder K NK; Sidorov, Evgeny E; Peyton, Marvin D MD; Blackett, Piers R PR; Curran, Joanne E JE; Tai, E Shyong ES; van Dam, Rob R; Cheng, Ching-Yu CY; Duggirala, Ravindranath R; Blangero, John J; Chambers, John C JC; Sabanayagam, Charumathi C; Kooner, Jaspal S JS; Rivas, Manuel A MA; Aston, Christopher E CE; Sanghera, Dharambir K DK
A study of elective genome sequencing and pharmacogenetic testing in an unselected population.
Molecular Genetics & Genomic Medicine
Cochran, Meagan M; East, Kelly K; Greve, Veronica V; Kelly, Melissa M; Kelley, Whitley W; Moore, Troy T; Myers, Richard M RM; Odom, Katherine K; Schroeder, Molly C MC; Bick, David D
A study of elective genome sequencing and pharmacogenetic testing in an unselected population.
Molecular Genetics & Genomic Medicine
Cochran, Meagan M; East, Kelly K; Greve, Veronica V; Kelly, Melissa M; Kelley, Whitley W; Moore, Troy T; Myers, Richard M RM; Odom, Katherine K; Schroeder, Molly C MC; Bick, David D
Genome-Wide Identification of Rare and Common Variants Driving Triglyceride Levels in a Nevada Population.
Frontiers In Genetics
Read, Robert W RW; Schlauch, Karen A KA; Lombardi, Vincent C VC; Cirulli, Elizabeth T ET; Washington, Nicole L NL; Lu, James T JT; Grzymski, Joseph J JJ
Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.
Molecular Psychiatry
Jia, Xiaoming X; Goes, Fernando S FS; Locke, Adam E AE; Palmer, Duncan D; Wang, Weiqing W; Cohen-Woods, Sarah S; Genovese, Giulio G; Jackson, Anne U AU; Jiang, Chen C; Kvale, Mark M; Mullins, Niamh N; Nguyen, Hoang H; Pirooznia, Mehdi M; Rivera, Margarita M; Ruderfer, Douglas M DM; Shen, Ling L; Thai, Khanh K; Zawistowski, Matthew M; Zhuang, Yongwen Y; Abecasis, Gonçalo G; Akil, Huda H; Bergen, Sarah S; Burmeister, Margit M; Chapman, Sinéad S; DelaBastide, Melissa M; Juréus, Anders A; Kang, Hyun Min HM; Kwok, Pui-Yan PY; Li, Jun Z JZ; Levy, Shawn E SE; Monson, Eric T ET; Moran, Jennifer J; Sobell, Janet J; Watson, Stanley S; Willour, Virginia V; Zöllner, Sebastian S; Adolfsson, Rolf R; Blackwood, Douglas D; Boehnke, Michael M; Breen, Gerome G; Corvin, Aiden A; Craddock, Nick N; DiFlorio, Arianna A; Hultman, Christina M CM; Landen, Mikael M; Lewis, Cathryn C; McCarroll, Steven A SA; Richard McCombie, W W; McGuffin, Peter P; McIntosh, Andrew A; McQuillin, Andrew A; Morris, Derek D; Myers, Richard M RM; O'Donovan, Michael M; Ophoff, Roel R; Boks, Marco M; Kahn, Rene R; Ouwehand, Willem W; Owen, Michael M; Pato, Carlos C; Pato, Michele M; Posthuma, Danielle D; Potash, James B JB; Reif, Andreas A; Sklar, Pamela P; Smoller, Jordan J; Sullivan, Patrick F PF; Vincent, John J; Walters, James J; Neale, Benjamin B; Purcell, Shaun S; Risch, Neil N; Schaefer, Catherine C; Stahl, Eli A EA; Zandi, Peter P PP; Scott, Laura J LJ
Association between triglycerides, known risk SNVs and conserved rare variation in SLC25A40 in a multi-ancestry cohort.
Bmc Medical Genomics
Rosenthal, Elisabeth A EA; Crosslin, David R DR; Gordon, Adam S AS; Carrell, David S DS; Stanaway, Ian B IB; Larson, Eric B EB; Grafton, Jane J; Wei, Wei-Qi WQ; Denny, Joshua C JC; Feng, Qi-Ping QP; Shah, Amy S AS; Sturm, Amy C AC; Ritchie, Marylyn D MD; Pacheco, Jennifer A JA; Hakonarson, Hakon H; Rasmussen-Torvik, Laura J LJ; Connolly, John J JJ; Fan, Xiao X; Safarova, Maya M; Kullo, Iftikhar J IJ; Jarvik, Gail P GP
Loss-of-function genomic variants highlight potential therapeutic targets for cardiovascular disease.
Nature Communications
Nielsen, Jonas B JB; Rom, Oren O; Surakka, Ida I; Graham, Sarah E SE; Zhou, Wei W; Roychowdhury, Tanmoy T; Fritsche, Lars G LG; Gagliano Taliun, Sarah A SA; Sidore, Carlo C; Liu, Yuhao Y; Gabrielsen, Maiken E ME; Skogholt, Anne Heidi AH; Wolford, Brooke B; Overton, William W; Zhao, Ying Y; Chen, Jin J; Zhang, He H; Hornsby, Whitney E WE; Acheampong, Akua A; Grooms, Austen A; Schaefer, Amanda A; Zajac, Gregory J M GJM; Villacorta, Luis L; Zhang, Jifeng J; Brumpton, Ben B; Løset, Mari M; Rai, Vivek V; Lundegaard, Pia R PR; Olesen, Morten S MS; Taylor, Kent D KD; Palmer, Nicholette D ND; Chen, Yii-Der YD; Choi, Seung H SH; Lubitz, Steven A SA; Ellinor, Patrick T PT; Barnes, Kathleen C KC; Daya, Michelle M; Rafaels, Nicholas N; Weiss, Scott T ST; Lasky-Su, Jessica J; Tracy, Russell P RP; Vasan, Ramachandran S RS; Cupples, L Adrienne LA; Mathias, Rasika A RA; Yanek, Lisa R LR; Becker, Lewis C LC; Peyser, Patricia A PA; Bielak, Lawrence F LF; Smith, Jennifer A JA; Aslibekyan, Stella S; Hidalgo, Bertha A BA; Arnett, Donna K DK; Irvin, Marguerite R MR; Wilson, James G JG; Musani, Solomon K SK; Correa, Adolfo A; Rich, Stephen S SS; Guo, Xiuqing X; Rotter, Jerome I JI; Konkle, Barbara A BA; Johnsen, Jill M JM; Ashley-Koch, Allison E AE; Telen, Marilyn J MJ; Sheehan, Vivien A VA; Blangero, John J; Curran, Joanne E JE; Peralta, Juan M JM; Montgomery, Courtney C; Sheu, Wayne H-H WH; Chung, Ren-Hua RH; Schwander, Karen K; Nouraie, Seyed M SM; Gordeuk, Victor R VR; Zhang, Yingze Y; Kooperberg, Charles C; Reiner, Alexander P AP; Jackson, Rebecca D RD; Bleecker, Eugene R ER; Meyers, Deborah A DA; Li, Xingnan X; Das, Sayantan S; Yu, Ketian K; LeFaive, Jonathon J; Smith, Albert A; Blackwell, Tom T; Taliun, Daniel D; Zollner, Sebastian S; Forer, Lukas L; Schoenherr, Sebastian S; Fuchsberger, Christian C; Pandit, Anita A; Zawistowski, Matthew M; Kheterpal, Sachin S; Brummett, Chad M CM; Natarajan, Pradeep P; Schlessinger, David D; Lee, Seunggeun S; Kang, Hyun Min HM; Cucca, Francesco F; Holmen, Oddgeir L OL; Åsvold, Bjørn O BO; Boehnke, Michael M; Kathiresan, Sekar S; Abecasis, Goncalo R GR; Chen, Y Eugene YE; Willer, Cristen J CJ; Hveem, Kristian K
Publication Date: 2020-12-18
Variant appearance in text: APOC3: 55+1G>A; rs138326449
Metabolic characterisation of disturbances in the APOC3/triglyceride-rich lipoprotein pathway through sample-based recall by genotype.
Metabolomics : Official Journal Of The Metabolomic Society
Corbin, Laura J LJ; Hughes, David A DA; Chetwynd, Andrew J AJ; Taylor, Amy E AE; Southam, Andrew D AD; Jankevics, Andris A; Weber, Ralf J M RJM; Groom, Alix A; Dunn, Warwick B WB; Timpson, Nicholas J NJ
Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.
Bmc Medical Genomics
Dron, Jacqueline S JS; Wang, Jian J; McIntyre, Adam D AD; Iacocca, Michael A MA; Robinson, John F JF; Ban, Matthew R MR; Cao, Henian H; Hegele, Robert A RA
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Plos Genetics
Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM
Publication Date: 2019-10
Variant appearance in text: APOC3: 55+1G>A; rs138326449
Cohort-wide deep whole genome sequencing and the allelic architecture of complex traits.
Nature Communications
Gilly, Arthur A; Suveges, Daniel D; Kuchenbaecker, Karoline K; Pollard, Martin M; Southam, Lorraine L; Hatzikotoulas, Konstantinos K; Farmaki, Aliki-Eleni AE; Bjornland, Thea T; Waples, Ryan R; Appel, Emil V R EVR; Casalone, Elisabetta E; Melloni, Giorgio G; Kilian, Britt B; Rayner, Nigel W NW; Ntalla, Ioanna I; Kundu, Kousik K; Walter, Klaudia K; Danesh, John J; Butterworth, Adam A; Barroso, Inês I; Tsafantakis, Emmanouil E; Dedoussis, George G; Moltke, Ida I; Zeggini, Eleftheria E
Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.
Nature Genetics
Klarin, Derek D; Damrauer, Scott M SM; Cho, Kelly K; Sun, Yan V YV; Teslovich, Tanya M TM; Honerlaw, Jacqueline J; Gagnon, David R DR; DuVall, Scott L SL; Li, Jin J; Peloso, Gina M GM; Chaffin, Mark M; Small, Aeron M AM; Huang, Jie J; Tang, Hua H; Lynch, Julie A JA; Ho, Yuk-Lam YL; Liu, Dajiang J DJ; Emdin, Connor A CA; Li, Alexander H AH; Huffman, Jennifer E JE; Lee, Jennifer S JS; Natarajan, Pradeep P; Chowdhury, Rajiv R; Saleheen, Danish D; Vujkovic, Marijana M; Baras, Aris A; Pyarajan, Saiju S; Di Angelantonio, Emanuele E; Neale, Benjamin M BM; Naheed, Aliya A; Khera, Amit V AV; Danesh, John J; Chang, Kyong-Mi KM; Abecasis, Gonçalo G; Willer, Cristen C; Dewey, Frederick E FE; Carey, David J DJ; , ; , ; , ; , ; Concato, John J; Gaziano, J Michael JM; O'Donnell, Christopher J CJ; Tsao, Philip S PS; Kathiresan, Sekar S; Rader, Daniel J DJ; Wilson, Peter W F PWF; Assimes, Themistocles L TL
Remnant-Like Particle Cholesterol, Low-Density Lipoprotein Triglycerides, and Incident Cardiovascular Disease.
Journal Of The American College Of Cardiology
Saeed, Anum A; Feofanova, Elena V EV; Yu, Bing B; Sun, Wensheng W; Virani, Salim S SS; Nambi, Vijay V; Coresh, Josef J; Guild, Cameron S CS; Boerwinkle, Eric E; Ballantyne, Christie M CM; Hoogeveen, Ron C RC
Rare coding variants pinpoint genes that control human hematological traits.
Plos Genetics
Mousas, Abdou A; Ntritsos, Georgios G; Chen, Ming-Huei MH; Song, Ci C; Huffman, Jennifer E JE; Tzoulaki, Ioanna I; Elliott, Paul P; Psaty, Bruce M BM; , ; Auer, Paul L PL; Johnson, Andrew D AD; Evangelou, Evangelos E; Lettre, Guillaume G; Reiner, Alexander P AP
Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants.
Genome Medicine
Nagy, Reka R; Boutin, Thibaud S TS; Marten, Jonathan J; Huffman, Jennifer E JE; Kerr, Shona M SM; Campbell, Archie A; Evenden, Louise L; Gibson, Jude J; Amador, Carmen C; Howard, David M DM; Navarro, Pau P; Morris, Andrew A; Deary, Ian J IJ; Hocking, Lynne J LJ; Padmanabhan, Sandosh S; Smith, Blair H BH; Joshi, Peter P; Wilson, James F JF; Hastie, Nicholas D ND; Wright, Alan F AF; McIntosh, Andrew M AM; Porteous, David J DJ; Haley, Chris S CS; Vitart, Veronique V; Hayward, Caroline C
Metabolic Characterization of a Rare Genetic Variation Within APOC3 and Its Lipoprotein Lipase-Independent Effects.
Circulation. Cardiovascular Genetics
Drenos, Fotios F; Davey Smith, George G; Ala-Korpela, Mika M; Kettunen, Johannes J; Würtz, Peter P; Soininen, Pasi P; Kangas, Antti J AJ; Dale, Caroline C; Lawlor, Debbie A DA; Gaunt, Tom R TR; Casas, Juan-Pablo JP; Timpson, Nicholas J NJ
The Geisinger MyCode community health initiative: an electronic health record-linked biobank for precision medicine research.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Carey, David J DJ; Fetterolf, Samantha N SN; Davis, F Daniel FD; Faucett, William A WA; Kirchner, H Lester HL; Mirshahi, Uyenlinh U; Murray, Michael F MF; Smelser, Diane T DT; Gerhard, Glenn S GS; Ledbetter, David H DH
The UK10K project identifies rare variants in health and disease.
Nature
, ; Walter, Klaudia K; Min, Josine L JL; Huang, Jie J; Crooks, Lucy L; Memari, Yasin Y; McCarthy, Shane S; Perry, John R B JR; Xu, ChangJiang C; Futema, Marta M; Lawson, Daniel D; Iotchkova, Valentina V; Schiffels, Stephan S; Hendricks, Audrey E AE; Danecek, Petr P; Li, Rui R; Floyd, James J; Wain, Louise V LV; Barroso, Inês I; Humphries, Steve E SE; Hurles, Matthew E ME; Zeggini, Eleftheria E; Barrett, Jeffrey C JC; Plagnol, Vincent V; Richards, J Brent JB; Greenwood, Celia M T CM; Timpson, Nicholas J NJ; Durbin, Richard R; Soranzo, Nicole N