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cellSTAAR: incorporating single-cell-sequencing-based functional data to boost power in rare variant association testing of noncoding regions.

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Title: cellSTAAR: incorporating single-cell-sequencing-based functional data to boost power in rare variant association testing of noncoding regions.
Authors: Van Buren E; Department of Biostatistics, Harvard T.H. Chan School of Public Health, Cambridge, MA, USA., Zhang Y; Department of Neurosurgery, Duke University School of Medicine, Durham, NC, USA.; Department of Biostatistics and Bioinformatics, Duke University School of Medicine, Durham, NC, USA.; Duke Cancer Institute, Durham, NC, USA., Li X; Department of Biostatistics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA., Selvaraj MS; Center for Genomic Medicine and Cardiovascular Research Center, Massachusetts General Hospital, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Medicine, Harvard Medical School, Boston, MA, USA., Li Z; School of Mathematics and Statistics, Northeast Normal University, Changchun, China., Zhou H; Department of Biostatistics, Harvard T.H. Chan School of Public Health, Cambridge, MA, USA., Palmer ND; Department of Biochemistry, Wake Forest University School of Medicine, Winston-Salem, NC, USA., Arnett DK; Provost Office, University of South Carolina, Columbia, SC, USA., Blangero J; Department of Human Genetics and South Texas Diabetes and Obesity Institute, School of Medicine, The University of Texas Rio Grande Valley, Brownsville, TX, USA., Boerwinkle E; Human Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA., Cade BE; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Sleep and Circadian Disorders, Brigham and Women's Hospital, Boston, MA, USA.; Division of Sleep Medicine, Harvard Medical School, Boston, MA, USA., Carlson JC; Department of Human Genetics and Department of Biostatistics, University of Pittsburgh, Pittsburgh, PA, USA., Carson AP; Department of Medicine, University of Mississippi Medical Center, Jackson, MS, USA., Chen YI; The Institute for Translational Genomics and Population Sciences, Department of Pediatrics, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA, USA., Curran J; Department of Human Genetics and South Texas Diabetes and Obesity Institute, School of Medicine, The University of Texas Rio Grande Valley, Brownsville, TX, USA., Duggirala R; Department of Human Genetics and South Texas Diabetes and Obesity Institute, School of Medicine, The University of Texas Rio Grande Valley, Brownsville, TX, USA., Fornage M; Human Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX, USA.; Brown Foundation Institute of Molecular Medicine, McGovern Medical School, The University of Texas Health Science Center at Houston, Houston, TX, USA., Franceschini N; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Department of Epidemiology, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA., Graff M; Department of Epidemiology, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA., Gu C; Division of Biology & Biomedical Sciences, Washington University School of Medicine, St. Louis, MO, USA., Guo X; The Institute for Translational Genomics and Population Sciences, Department of Pediatrics, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA, USA., He J; Department of Epidemiology, Tulane University School of Public Health and Tropical Medicine, New Orleans, LA, USA., Heard-Cosa N; Department of Neurology, Boston University Chobanian & Avedisian School of Medicine, Boston, MA, USA.; Framingham Heart Study, Framingham, MA, USA., Hou L; Department of Preventive Medicine, Northwestern University, Chicago, IL, USA., Hung YJ; Department of Internal Medicine, Tri-Service General Hospital, National Defense Medical Center, Taipei, Taiwan., Kalyani RR; Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Kardia SLR; Department of Epidemiology, School of Public Health, University of Michigan, Ann Arbor, MI, USA., Kenny E; Institute for Genomic Health, Icahn School of Medicine, New York, NY, USA.; Center for Translational Genomics, Icahn School of Medicine, New York, NY, USA.; Division of Genomic Medicine, Department of Medicine, Icahn School of Medicine, New York, NY, USA.; Departments of Genetics and Genomic Sciences, Icahn School of Medicine, New York, NY, USA., Kooperberg C; Division of Public Health Sciences, Fred Hutchinson Cancer Center, Seattle, WA, USA., Kral BG; Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Lange L; Department of Biomedical Informatics, University of Colorado, School of Medicine, Aurora, CO, USA., Levy D; Framingham Heart Study, Framingham, MA, USA., Li C; Department of Epidemiology, Tulane University School of Public Health and Tropical Medicine, New Orleans, LA, USA.; Tulane University Translational Science Institute, New Orleans, LA, USA., Liu S; Department of Epidemiology, Brown University, Providence, RI, USA., Lloyd-Jones D; Department of Preventive Medicine, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA., Loos RJF; The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark., Manichaikul AW; Department of Genome Sciences, University of Virginia, Charlottesville, VA, USA., Martin LW; George Washington University School of Medicine and Health Sciences, Washington, DC, USA., Mathias R; Laboratory of Allergic Diseases, Genomics and Precision Health Section, National Institute of Allergy and Infectious Diseases, Bethesda, MD, USA., Minster RL; Department of Human Genetics, University of Pittsburgh, Pittsburgh, PA, USA., Mitchell BD; Department of Medicine, University of Maryland School of Medicine, Baltimore, MD, USA., Mychaleckyj JC; Department of Genome Sciences, University of Virginia, Charlottesville, VA, USA., Naseri T; International Health Institute, Brown University, Providence, RI, USA.; Naseri & Associates Public Health Consultancy Firm and Public Health Clinic, Apia, Samoa., North K; Department of Epidemiology, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Border Health Research Center, UTHealth Houston School of Public Health-Brownsville Campus, Brownsville, TX, USA.; Department of Epidemiology, UTHealth Houston School of Public Health-Brownsville Campus, Brownsville, TX, USA.; Department of Internal Medicine, McGovern Medical School, Houston, TX, USA., O'Connell J; Department of Medicine, University of Maryland School of Medicine, Baltimore, MD, USA., Perry JA; Department of Medicine, University of Maryland School of Medicine, Baltimore, MD, USA., Peyser PA; Department of Epidemiology, School of Public Health, University of Michigan, Ann Arbor, MI, USA., Psaty BM; Cardiovascular Health Research Unit, Department of Medicine, University of Washington, Seattle, WA, USA.; Department of Epidemiology, University of Washington, Seattle, WA, USA.; Department of Health Systems and Population Health, University of Washington, Seattle, WA, USA., Raffield LM; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA., Vasan RS; Framingham Heart Study, Framingham, MA, USA.; Department of Quantitative and Qualitative Health Sciences, UT Health San Antonio School of Public Health, San Antonio, TX, USA., Redline S; Division of Sleep and Circadian Disorders, Brigham and Women's Hospital, Boston, MA, USA.; Division of Sleep Medicine, Harvard Medical School, Boston, MA, USA., Reiner AP; Division of Public Health Sciences, Fred Hutchinson Cancer Center, Seattle, WA, USA.; Department of Epidemiology, University of Washington, Seattle, WA, USA., Rich SS; Department of Genome Sciences, University of Virginia, Charlottesville, VA, USA., Smith JA; Department of Epidemiology, School of Public Health, University of Michigan, Ann Arbor, MI, USA.; Survey Research Center, Institute for Social Research, University of Michigan, Ann Arbor, MI, USA., Spitzer B; Brigham and Women's Hospital, Boston, MA, USA., Tang H; Department of Genetics, School of Medicine, Stanford University, Stanford, CA, USA., Taylor KD; The Institute for Translational Genomics and Population Sciences, Department of Pediatrics, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA, USA., Tracy R; Department of Pathology and Laboratory Medicine, Larnar College of Medicine, University of Vermont, Burlington, VT, USA., Viali S; Oceania University of Medicine, School of Medicine, National University of Samoa, Apia, Samoa.; Department of Chronic Disease Epidemiology, Yale University, New Haven, CT, USA., Yanek L; Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Zhao W; Department of Epidemiology, School of Public Health, University of Michigan, Ann Arbor, MI, USA.; Survey Research Center, Institute for Social Research, University of Michigan, Ann Arbor, MI, USA., Rotter JI; The Institute for Translational Genomics and Population Sciences, Department of Pediatrics, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA, USA., Peloso GM; Department of Biostatistics, Boston University School of Public Health, Boston, MA, USA., Natarajan P; Center for Genomic Medicine and Cardiovascular Research Center, Massachusetts General Hospital, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Medicine, Harvard Medical School, Boston, MA, USA., Lin X; Department of Biostatistics, Harvard T.H. Chan School of Public Health, Cambridge, MA, USA. xlin@hsph.harvard.edu.; Department of Statistics, Harvard University, Cambridge, MA, USA. xlin@hsph.harvard.edu.
Corporate Authors: NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium
Source: Nature methods [Nat Methods] 2026 Feb; Vol. 23 (2), pp. 338-349. Date of Electronic Publication: 2025 Dec 31.
Publication Type: Journal Article
Journal Info: Publisher: Nature Pub. Group Country of Publication: United States NLM ID: 101215604 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1548-7105 (Electronic) Linking ISSN: 15487091 NLM ISO Abbreviation: Nat Methods Subsets: MEDLINE
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  Data: cellSTAAR: incorporating single-cell-sequencing-based functional data to boost power in rare variant association testing of noncoding regions.
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      – TitleFull: cellSTAAR: incorporating single-cell-sequencing-based functional data to boost power in rare variant association testing of noncoding regions.
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            – D: 01
              M: 02
              Text: 2026 Feb
              Type: published
              Y: 2026
          Identifiers:
            – Type: issn-electronic
              Value: 1548-7105
          Numbering:
            – Type: volume
              Value: 23
            – Type: issue
              Value: 2
          Titles:
            – TitleFull: Nature methods
              Type: main
ResultId 1