Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program
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Abstract
The Trans-Omics for Precision Medicine (TOPMed) programme seeks to elucidate the genetic architecture and biology of heart, lung, blood and sleep disorders, with the ultimate goal of improving diagnosis, treatment and prevention of these diseases. The initial phases of the programme focused on whole-genome sequencing of individuals with rich phenotypic data and diverse backgrounds. Here we describe the TOPMed goals and design as well as the available resources and early insights obtained from the sequence data. The resources include a variant browser, a genotype imputation server, and genomic and phenotypic data that are available through dbGaP (Database of Genotypes and Phenotypes) 1 . In the first 53,831 TOPMed samples, we detected more than 400 million single-nucleotide and insertion or deletion variants after alignment with the reference genome. Additional previously undescribed variants were detected through assembly of unmapped reads and customized analysis in highly variable loci. Among the more than 400 million detected variants, 97% have frequencies of less than 1% and 46% are singletons that are present in only one individual (53% among unrelated individuals). These rare variants provide insights into mutational processes and recent human evolutionary history. The extensive catalogue of genetic variation in TOPMed studies provides unique opportunities for exploring the contributions of rare and noncoding sequence variants to phenotypic variation. Furthermore, combining TOPMed haplotypes with modern imputation methods improves the power and reach of genome-wide association studies to include variants down to a frequency of approximately 0.01%.
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TOPMed collects whole-genome sequencing with the aim to integrate this genetic information with other omics data.
“TOPMed collects WGS with the aim to integrate this genetic information with other omics data 89 .”
From Multimodal biomedical AI (2022) · cites this paper as [89]
Other consortia aim to provide comprehensive multi-omics atlases of heart, lung, blood, sleep disorders and ageing, incorporating thousands of datasets to identify cell types associated with disease onset and progression.
“Other consortia aim to provide comprehensive multi-omics atlases of the heart, lung, blood, sleep disorders and ageing, all incorporating thousands of datasets to identify cell types associated with disease onset and progression150.”
From The technological landscape and applications of single-cell multi-omics (2023) · cites this paper as [150]
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“Further gains in the depth and number of sequenced individuals of diverse ances-tries 41,42 may also improve the discovery of new variants and loci in diverse cohorts, in particular variants that are absent at present from arrays and imputation reference panels.”
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<i>APOE</i> Genotype and Alzheimer Disease Risk Across Age, Sex, and Population Ancestry
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Self-citationSynGAP regulates synaptic plasticity and cognition independently of its catalytic activity
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Association of Rare <i>APOE</i> Missense Variants V236E and R251G With Risk of Alzheimer Disease
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Ancient Rapanui genomes reveal resilience and pre-European contact with the Americas
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- Authors
- Taliun, D., Harris, D. N., Kessler, M. D., Carlson, J., Szpiech, Z. A., Torres, R., Taliun, S. A. G., Corvelo, A., Gogarten, S. M., Kang, H. M., Pitsillides, A. N., LeFaive, J., Lee, S.-B., Tian, X., Browning, B. L., Das, S., Emde, A.-K., Clarke, W. E., Loesch, D. P., Shetty, A. C., Blackwell, T. W., Smith, A. V., Wong, Q., Liu, X., Conomos, M. P., Bobo, D. M., Aguet, F., Albert, C., Alonso, A., Ardlie, K. G., Arking, D. E., Aslibekyan, S., Auer, P. L., Barnard, J., Barr, R. G., Barwick, L., Becker, L. C., Beer, R. L., Benjamin, E. J., Bielak, L. F., Blangero, J., Boehnke, M., Bowden, D. W., Brody, J. A., Burchard, E. G., Cade, B. E., Casella, J. F., Chalazan, B., Chasman, D. I., Chen, Y.-D. I., Cho, M. H., Choi, S. H., Chung, M. K., Clish, C. B., Correa, A., Curran, J. E., Custer, B., Darbar, D., Daya, M., de Andrade, M., DeMeo, D. L., Dutcher, S. K., Ellinor, P. T., Emery, L. S., Eng, C., Fatkin, D., Fingerlin, T., Forer, L., Fornage, M., Franceschini, N., Fuchsberger, C., Fullerton, S. M., Germer, S., Gladwin, M. T., Gottlieb, D. J., Guo, X., Hall, M. E., He, J., Heard-Costa, N. L., Heckbert, S. R., Irvin, M. R., Johnsen, J. M., Johnson, A. D., Kaplan, R., Kardia, S. L. R., Kelly, T., Kelly, S., Kenny, E. E., Kiel, D. P., Klemmer, R., Konkle, B. A., Kooperberg, C., Köttgen, A., Lange, L. A., Lasky-Su, J., Levy, D., Lin, X., Lin, K.-H., Liu, C., Loos, R. J. F., Garman, L., Gerszten, R., Lubitz, S. A., Lunetta, K. L., Mak, A. C. Y., Manichaikul, A., Manning, A. K., Mathias, R. A., McManus, D. D., McGarvey, S. T., Meigs, J. B., Meyers, D. A., Mikulla, J. L., Minear, M. A., Mitchell, B. D., Mohanty, S., Montasser, M. E., Montgomery, C., Morrison, A. C., Murabito, J. M., Natale, A., Natarajan, P., Nelson, S. C., North, K. E., O’Connell, J. R., Palmer, N. D., Pankratz, N., Peloso, G. M., Peyser, P. A., Pleiness, J., Post, W. S., Psaty, B. M., Rao, D. C., Redline, S., Reiner, A. P., Roden, D., Rotter, J. I., Ruczinski, I., Sarnowski, C., Schoenherr, S., Schwartz, D. A., Seo, J.-S., Seshadri, S., Sheehan, V. A., Sheu, W. H., Shoemaker, M. B., Smith, N. L., Smith, J. A., Sotoodehnia, N., Stilp, A. M., Tang, W., Taylor, K. D., Telen, M., Thornton, T. A., Tracy, R. P., Van Den Berg, D. J., Vasan, R. S., Viaud-Martinez, K. A., Vrieze, S., Weeks, D. E., Weir, B. S., Weiss, S. T., Weng, L.-C., Willer, C. J., Zhang, Y., Zhao, X., Arnett, D. K., Ashley-Koch, A. E., Barnes, K. C., Boerwinkle, E., Gabriel, S., Gibbs, R., Rice, K. M., Rich, S. S., Silverman, E. K., Qasba, P., Gan, W., NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, Abe, N., Almasy, L., Ament, S., Anderson, P., Anugu, P., Applebaum-Bowden, D., Assimes, T., Avramopoulos, D., Barron-Casella, E., Beaty, T., Beck, G., Becker, D., Beitelshees, A., Benos, T., Bezerra, M., Bis, J., Bowler, R., Broeckel, U., Broome, J., Bunting, K., Bustamante, C., Buth, E., Cardwell, J., Carey, V., Carty, C., Casaburi, R., Castaldi, P., Chaffin, M., Chang, C., Chang, Y.-C., Chavan, S., Chen, B.-J., Chen, W.-M., Chuang, L.-M., Chung, R.-H., Comhair, S., Cornell, E., Crandall, C., Crapo, J., Curtis, J., Damcott, C., David, S., Davis, C., Fuentes, L. D. L., DeBaun, M., Deka, R., Devine, S., Duan, Q., Duggirala, R., Durda, J. P., Eaton, C., Ekunwe, L., El Boueiz, A., Erzurum, S., Farber, C., Flickinger, M., Fornage, M., Frazar, C., Fu, M., Fulton, L., Gao, S., Gao, Y., Gass, M., Gelb, B., Geng, X. P., Geraci, M., Ghosh, A., Gignoux, C., Glahn, D., Gong, D.-W., Goring, H., Graw, S., Grine, D., Gu, C. C., Guan, Y., Gupta, N., Haessler, J., Hawley, N. L., Heavner, B., Herrington, D., Hersh, C., Hidalgo, B., Hixson, J., Hobbs, B., Hokanson, J., Hong, E., Hoth, K., Hsiung, C. A., Hung, Y.-J., Huston, H., Hwu, C. M., Jackson, R., Jain, D., Jhun, M. A., Johnson, C., Johnston, R., Jones, K., Kathiresan, S., Khan, A., Kim, W., Kinney, G., Kramer, H., Lange, C., Lange, E., Lange, L., Laurie, C., LeBoff, M., Lee, J., Lee, S. S., Lee, W.-J., Levine, D., Lewis, J., Li, X., Li, Y., Lin, H., Lin, H., Lin, K. H., Liu, S., Liu, Y., Liu, Y., Luo, J., Mahaney, M., Make, B., Manson, J., Margolin, L., Martin, L., Mathai, S., May, S., McArdle, P., McDonald, M.-L., McFarland, S., McGoldrick, D., McHugh, C., Mei, H., Mestroni, L., Min, N., Minster, R. L., Moll, M., Moscati, A., Musani, S., Mwasongwe, S., Mychaleckyj, J. C., Nadkarni, G., Naik, R., Naseri, T., Nekhai, S., Neltner, B., Ochs-Balcom, H., Paik, D., Pankow, J., Parsa, A., Peralta, J. M., Perez, M., Perry, J., Peters, U., Phillips, L. S., Pollin, T., Becker, J. P., Boorgula, M. P., Preuss, M., Qiao, D., Qin, Z., Rafaels, N., Raffield, L., Rasmussen-Torvik, L., Ratan, A., Reed, R., Regan, E., Reupena, M. S., Roselli, C., Russell, P., Ruuska, S., Ryan, K., Sabino, E. C., Saleheen, D., Salimi, S., Salzberg, S., Sandow, K., Sankaran, V. G., Scheller, C., Schmidt, E., Schwander, K., Sciurba, F., Seidman, C., Seidman, J., Sherman, S. L., Shetty, A., Sheu, W. H.-H., Silver, B., Smith, J., Smith, T., Smoller, S., Snively, B., Snyder, M., Sofer, T., Storm, G., Streeten, E., Sung, Y. J., Sylvia, J., Szpiro, A., Sztalryd, C., Tang, H., Taub, M., Taylor, M., Taylor, S., Threlkeld, M., Tinker, L., Tirschwell, D., Tishkoff, S., Tiwari, H., Tong, C., Tsai, M., Vaidya, D., VandeHaar, P., Walker, T., Wallace, R., Walts, A., Wang, F. F., Wang, H., Watson, K., Wessel, J., Williams, K., Williams, L. K., Wilson, C., Wu, J., Xu, H., Yanek, L., Yang, I., Yang, R., Zaghloul, N., Zekavat, M., Zhao, S. X., Zhao, W., Zhi, D., Zhou, X., Zhu, X., Papanicolaou, G. J., Nickerson, D. A., Browning, S. R., Zody, M. C., Zöllner, S., Wilson, J. G., Cupples, L. A., Laurie, C. C., Jaquish, C. E., Hernandez, R. D., O’Connor, T. D., & Abecasis, G. R.
- Affiliations
- University of Michigan (US)
- University of Maryland, Baltimore (US)
- University of Washington (US)
- Pennsylvania State University (US)
- University of California, San Francisco (US)
- New York Genome Center (US)
- Boston University (US)
- University of South Florida (US)
- Icahn School of Medicine at Mount Sinai (US)
- Broad Institute (US)
- Massachusetts General Hospital (US)
- Johns Hopkins University (US)
- University of Alabama at Birmingham (US)
- University of Wisconsin–Milwaukee (US)
- Cleveland Clinic (US)
- Columbia University Irving Medical Center (US)
- Emmes (United States) (US)
- National Institutes of Health (US)
- The University of Texas Rio Grande Valley (US)
- Wake Forest University Health Sciences (US)
- Brigham and Women's Hospital (US)
- University of British Columbia (CA)
- The Lundquist Institute (US)
- University of Mississippi Medical Center (US)
- University of Illinois Chicago (US)
- University of Colorado Anschutz (US)
- Washington University in St. Louis (US)
- Victor Chang Cardiac Research Institute (AU)
- National Jewish Health (US)
- Innsbruck Medical University (AT)
- University of North Carolina at Chapel Hill (US)
- Eurac Research (IT)
- University of Pittsburgh (US)
- Tulane University (US)
- Albert Einstein College of Medicine (US)
- UCSF Benioff Children's Hospital (US)
- Fred Hutch Cancer Center (US)
- University of Colorado Denver (US)
- Harvard University (US)
- Oklahoma Medical Research Foundation (US)
- Beth Israel Deaconess Medical Center (US)
- University of Virginia (US)
- University of Massachusetts Chan Medical School (US)
- Brown University (US)
- University of Arizona (US)
- St David's Medical Center (US)
- The University of Texas Health Science Center at Houston (US)
- University of Minnesota (US)
- Kaiser Permanente Washington Health Research Institute (US)
- Vanderbilt University Medical Center (US)
- Seoul National University Bundang Hospital (KR)
- The University of Texas at San Antonio Health Science Center (US)
- Emory University (US)
- United States Department of Veterans Affairs (US)
- Duke University (US)
- University of Vermont (US)
- University of Kentucky (US)
- Baylor College of Medicine (US)
- Children's Hospital of Philadelphia (US)
- University of Mississippi (US)
- Medical College of Wisconsin (US)
- Stanford University (US)
- Washington State University (US)
- University of California, Los Angeles (US)
- National Taiwan University (TW)
- National Health Research Institutes (TW)
- University of Chicago (US)
- Vanderbilt University (US)
- University of Cincinnati (US)
- Indiana University Indianapolis (US)
- Yale University (US)
- Atrium Health Wake Forest Baptist (US)
- University of Iowa (US)
- Tri-Service General Hospital (TW)
- Bloodworks Northwest (US)
- Taichung Veterans General Hospital (TW)
- The Ohio State University Wexner Medical Center (US)
- George Washington University (US)
- Howard University (US)
- Northwestern University (US)
- Universidade de São Paulo (BR)
- Columbia University (US)
- UMass Memorial Medical Center (US)
- University of Pennsylvania (US)
- Corresponding author
- Laurie, Cecelia
- Cupples, L. Adrienne
- Laurie, Cathy C.
- Jaquish, Cashell E.
- Hernandez, Ryan D.
- O’Connor, Timothy D.
- Abecasis, Gonçalo R.
- ORCID
- Taliun, Daniel
- Harris, Daniel N.
- Kessler, Michael D.
- Carlson, Jedidiah
- Szpiech, Zachary A.
- Taliun, Sarah A. Gagliano
- Corvelo, André
- Gogarten, Stephanie M.
- Kang, Hyun Min
- Pitsillides, Achilleas N.
- LeFaive, Jonathon
- Lee, Seung-been
- Browning, Brian L.
- Das, Sayantan
- Emde, Anne-Katrin
- Clarke, Wayne E.
- Loesch, Douglas P.
- Shetty, Amol C.
- Blackwell, Thomas W.
- Smith, Albert V.
- Wong, Quenna
- Liu, Xiaoming
- Conomos, Matthew P.
- Bobo, Dean M.
- Aguet, François
- Albert, Christine
- Ardlie, Kristin G.
- Arking, Dan E.
- Aslibekyan, Stella
- Auer, Paul L.
- Barnard, John
- Barr, R. Graham
- Becker, Lewis C.
- Benjamin, Emelia J.
- Bielak, Lawrence F.
- Blangero, John
- Boehnke, Michael
- Bowden, Donald W.
- Brody, Jennifer A.
- Burchard, Esteban G.
- Cade, Brian E.
- Casella, James F.
- Chalazan, Brandon
- Chasman, Daniel I.
- Chen, Yii-Der Ida
- Cho, Michael H.
- Choi, Seung Hoan
- Chung, Mina K.
- Clish, Clary B.
- Correa, Adolfo
- Curran, Joanne E.
- Custer, Brian
- Darbar, Dawood
- Daya, Michelle
- DeMeo, Dawn L.
- Dutcher, Susan K.
- Ellinor, Patrick T.
- Emery, Leslie S.
- Eng, Celeste
- Fatkin, Diane
- Fingerlin, Tasha
- Forer, Lukas
- Franceschini, Nora
- Fuchsberger, Christian
- Fullerton, Stephanie M.
- Gladwin, Mark T.
- Gottlieb, Daniel J.
- Guo, Xiuqing
- Hall, Michael E.
- He, Jiang
- Heckbert, Susan R.
- Irvin, Marguerite R.
- Johnsen, Jill M.
- Johnson, Andrew D.
- Kaplan, Robert
- Kelly, Tanika
- Kelly, Shannon
- Kenny, Eimear E.
- Kiel, Douglas P.
- Konkle, Barbara A.
- Kooperberg, Charles
- Köttgen, Anna
- Lange, Leslie A.
- Lasky-Su, Jessica
- Levy, Daniel
- Lin, Xihong
- Liu, Chunyu
- Loos, Ruth J. F.
- Garman, Lori
- Gerszten, Robert
- Lubitz, Steven A.
- Lunetta, Kathryn L.
- Mak, Angel C. Y.
- Manichaikul, Ani
- Manning, Alisa K.
- Mathias, Rasika A.
- McManus, David D.
- McGarvey, Stephen T.
- Meigs, James B.
- Meyers, Deborah A.
- Minear, Mollie A.
- Mitchell, Braxton D.
- Mohanty, Sanghamitra
- Montasser, May E.
- Montgomery, Courtney
- Morrison, Alanna C.
- Murabito, Joanne M.
- Natale, Andrea
- Natarajan, Pradeep
- Nelson, Sarah C.
- North, Kari E.
- O’Connell, Jeffrey R.
- Palmer, Nicholette D.
- Pankratz, Nathan
- Peloso, Gina M.
- Peyser, Patricia A.
- Post, Wendy S.
- Psaty, Bruce M.
- Rao, D. C.
- Redline, Susan
- Roden, Dan
- Rotter, Jerome I.
- Ruczinski, Ingo
- Sarnowski, Chloé
- Schwartz, David A.
- Seo, Jeong-Sun
- Seshadri, Sudha
- Sheehan, Vivien A.
- Shoemaker, M. Benjamin
- Smith, Nicholas L.
- Smith, Jennifer A.
- Stilp, Adrienne M.
- Tang, Weihong
- Taylor, Kent D.
- Telen, Marilyn
- Thornton, Timothy A.
- Tracy, Russell P.
- Vasan, Ramachandran S.
- Vrieze, Scott
- Weeks, Daniel E.
- Weir, Bruce S.
- Weiss, Scott T.
- Weng, Lu-Chen
- Willer, Cristen J.
- Zhang, Yingze
- Zhao, Xutong
- Arnett, Donna K.
- Barnes, Kathleen C.
- Boerwinkle, Eric
- Gabriel, Stacey
- Gibbs, Richard
- Rice, Kenneth M.
- Rich, Stephen S.
- Silverman, Edwin K.
- Gan, Weiniu
- Abe, Namiko
- Almasy, Laura
- Ament, Seth
- Anugu, Pramod
- Avramopoulos, Dimitrios
- Beck, Gerald
- Becker, Diane
- Beitelshees, Amber
- Bezerra, Marcos
- Bis, Joshua
- Broeckel, Ulrich
- Broome, Jai
- Bustamante, Carlos
- Buth, Erin
- Carey, Vincent
- Carty, Cara
- Casaburi, Richard
- Castaldi, Peter
- Chaffin, Mark
- Chang, Yi-Cheng
- Chavan, Sameer
- Chen, Wei-Min
- Chuang, Lee-Ming
- Chung, Ren-Hua
- Comhair, Suzy
- Crandall, Carolyn
- Crapo, James
- Curtis, Jeffrey
- Damcott, Coleen
- David, Sean
- Fuentes, Lisa de las
- DeBaun, Michael
- Deka, Ranjan
- Devine, Scott
- Duan, Qing
- Durda, Jon Peter
- Eaton, Charles
- Ekunwe, Lynette
- Erzurum, Serpil
- Farber, Charles
- Flickinger, Matthew
- Frazar, Chris
- Fulton, Lucinda
- Gao, Shanshan
- Gao, Yan
- Gelb, Bruce
- Geraci, Mark
- Ghosh, Auyon
- Glahn, David
- Gong, Da-Wei
- Graw, Sharon
- Gu, C. Charles
- Guan, Yue
- Gupta, Namrata
- Hawley, Nicola L.
- Heavner, Ben
- Herrington, David
- Hersh, Craig
- Hidalgo, Bertha
- Hixson, James
- Hobbs, Brian
- Hokanson, John
- Hoth, Karin
- Hsiung, Chao Agnes
- Hung, Yi-Jen
- Jain, Deepti
- Johnson, Craig
- Kathiresan, Sekar
- Khan, Alyna
- Kim, Wonji
- Kramer, Holly
- Lange, Christoph
- Lange, Ethan
- Laurie, Cecelia
- LeBoff, Meryl
- Li, Yun
- Lin, Honghuang
- Mahaney, Michael
- Make, Barry
- Manson, JoAnn
- Martin, Lisa
- Mei, Hao
- Mestroni, Luisa
- Moscati, Arden
- Mwasongwe, Stanford
- Mychaleckyj, Josyf C.
- Nadkarni, Girish
- Nekhai, Sergei
- Paik, David
- Pankow, James
- Perez, Marco
- Perry, James
- Peters, Ulrike
- Pollin, Toni
- Preuss, Michael
- Qiao, Dandi
- Rafaels, Nicholas
- Rasmussen-Torvik, Laura
- Ratan, Aakrosh
- Reupena, Muagututi‘a Sefuiva
- Roselli, Carolina
- Ruuska, Sarah
- Sabino, Ester Cerdeira
- Saleheen, Danish
- Salimi, Shabnam
- Salzberg, Steven
- Sankaran, Vijay G.
- Schmidt, Ellen
- Schwander, Karen
- Seidman, Christine
- Seidman, Jonathan
- Sherman, Stephanie L.
- Shetty, Aniket
- Snyder, Michael
- Sofer, Tamar
- Sung, Yun Ju
- Szpiro, Adam
- Tang, Hua
- Taub, Margaret
- Tirschwell, David
- Tishkoff, Sarah
- Vaidya, Dhananjay
- VandeHaar, Peter
- Wallace, Robert
- Walts, Avram
- Wessel, Jennifer
- Wu, Joseph
- Xu, Huichun
- Yanek, Lisa
- Zaghloul, Norann
- Zhi, Degui
- Papanicolaou, George J.
- Nickerson, Deborah A.
- Browning, Sharon R.
- Zody, Michael C.
- Zöllner, Sebastian
- Wilson, James G.
- Cupples, L. Adrienne
- Laurie, Cathy C.
- Jaquish, Cashell E.
- Hernandez, Ryan D.
- O’Connor, Timothy D.
- Abecasis, Gonçalo R.
- Venue
- Nature
- Published
- 2021-02-10
- Volume
- 590
- Issue
- 7845
- Pages
- 290-299
- ISSN
- 0028-0836 (ISSN-L)
- 1476-4687
- PMC
- PMC7875770
- OpenAlex
- W3126160703
- Cited by
- 2,213
- References
- 134
- Citations by year
- 2026: 319 · 2025: 473 · 2024: 401 · 2023: 360 · 2022: 365 · 2021: 199 · 2020: 66 · 2019: 27 · 2017: 1
- FWCI
- 190.38
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Locations
- Nature (publishedVersion, cc-by)
- bioRxiv (Cold Spring Harbor Laboratory) (acceptedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- eScholarship@UMassChan (submittedVersion, cc-by)
- ScholarWorks @ UTRGV (The University of Texas Rio Grande Valley) (submittedVersion, cc-by)
- RePEc: Research Papers in Economics (submittedVersion)
- eScholarship (California Digital Library) (submittedVersion, cc-by)
- NHRI Institutional Repository (submittedVersion)
- IUScholarWorks (Indiana University) (submittedVersion, cc-by)
- Open Research (University of Surrey) (submittedVersion, cc-by)
- Funders
- U.S. Department of Health and Human Services
- U.S. Department of Veterans Affairs (I01 BX005295)
- National Institutes of Health (1r01hl120393-01a1, 5p50hl118006-05, HHSN268201800001I, 5k01hl135405-04, 5r03hl141439-02)
- National Institute on Aging (K01AG059898)
- National Heart, Lung, and Blood Institute (R01HL111314, 117626, R01HL151855, R03HL154284, R21HL123677, K24HL148521, R03-HL141439, HHSN268201800002I, R01HL123915, 3R01 HL-120393-02S1, R01-HL120393, K01-HL135405, P50-HL-118006, P01HL132825, UG3HL151865, U01HL120393, 3R01HL-120393, R01HL149836, R01 HL, HHSN268201800001I, R01HL090620, U01HL137162, R01HL131565, R01HL117626, K08HL141601, R01HL113326, UH3HL151865, R01HL142711, R01HL163972, R01HL155742, T32HL007085)
- National Institute on Drug Abuse (R01DA037904, R01DA044283)
- National Human Genome Research Institute (R35HG010692, R01HG005701, U01HG009088, T32HG000040)
- National Cancer Institute (U01CA182913, T32CA154274)
- National Institute of General Medical Sciences (R01GM075091)
- National Institute of Allergy and Infectious Diseases (R01AI132476)
- National Institute of Diabetes and Digestive and Kidney Diseases (R01DK117445, UM1DK078616, P30DK020572)
- National Institute of Environmental Health Sciences (P30ES010126)
- National Institute of Arthritis and Musculoskeletal and Skin Diseases (R01AR072199)
- National Institute on Minority Health and Health Disparities (R01MD012765)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Phylogenetic Studies
- Keywords
- TOPMed, whole genome sequencing, rare variants, single nucleotide variants, insertion-deletion variants, genetic variation, human evolution, mutational processes, haplotype imputation, genome-wide association study, dbGaP
- MeSH terms
- Whole Genome Sequencing, Loss of Function Mutation, Haplotypes, Heterozygote, Humans, Phenotype, Population Density, Quality Control, United States, Genetic Variation, Genome, Human, Mutagenesis, Sample Size, Cytochrome P-450 CYP2D6, Polymorphism, Single Nucleotide, Genomics, National Heart, Lung, and Blood Institute (U.S.), INDEL Mutation, Precision Medicine
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
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