ArticleAmerican journal of human genetics2016
Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine.
Erratum issued 2 registry-linked trialsAbstract read
In one paragraph
Article in American journal of human genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. It is linked to 2 registered trials, which are not on this map. Cited by 93 papers, 2 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
93citing papers in PubMed, 2 pooled it
–field-weighted citation impact
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
The MilSeq Project: Enabling Personalized Medicine Through Exome Sequencing in the U.S. Air Force
Pragmatic Randomized Trial of Polygenic Risk Scoring for Common Diseases in Primary Care
Who cites it
93 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- The full spectrum of ethical issues in pediatric genome-wide sequencing: a systematic qualitative review.BMC pediatrics · 2021Pooled it
- Psychological outcomes related to exome and genome sequencing result disclosure: a meta-analysis of seven Clinical Sequencing Exploratory Research (CSER) Consortium studies.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Pooled it
- Trial
- Assessment of willingness to pay for expanded carrier screening among women and couples undergoing preconception carrier screening.PloS one · 2018Trial
- The Impact of Whole-Genome Sequencing on the Primary Care and Outcomes of Healthy Adult Patients: A Pilot Randomized Trial.Annals of internal medicine · 2017Trial
- Newborn Sequencing in Genomic Medicine and Public Health.Pediatrics · 2017Trial
- Artificial Intelligence in genomics: a comprehensive survey of methods, resources, challenges, and prospects.Briefings in bioinformatics · 2026Review
- Understanding Genetic Screening: Harnessing Health Information to Prevent Disease Risks.International journal of medical sciences · 2025Review
- The Surviving, Not Thriving, Photoreceptors in Patients withDiagnostics (Basel, Switzerland) · 2024Article
- Combined bioinformatic and splicing analysis of likely benign intronic and synonymous variants reveals evidence for pathogenicity.Genetics in medicine open · 2024Article
- Far from Home: Managing Incidental Findings in Field Research with Portable MRI.The Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & Ethics · 2024Article
- Ethical, legal, and social implications (ELSI) and challenges in the design of a randomized controlled trial to test the online return of cancer genetic research results to U.S. Black women.Contemporary clinical trials · 2023Article
- Return of Results in Genomic Research Using Large-Scale or Whole Genome Sequencing: Toward a New Normal.Annual review of genomics and human genetics · 2023Review
- Blurred Boundaries: Toward an Expanded Ethics of Research and Clinical Care.The American journal of bioethics : AJOB · 2023Article
- Parents' Perspectives on Secondary Genetic Ancestry Findings in Pediatric Genomic Medicine.Clinical therapeutics · 2023Article
- Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testing.Genetics in medicine : official journal of the American College of Medical Genetics · 2023Article
- WGS Data Collections: How Do Genomic Databases Transform Medicine?International journal of molecular sciences · 2023Review
- Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testing.bioRxiv : the preprint server for biology · 2023Article
- Impact of returning unsolicited genomic results to nongenetic health care providers in the eMERGE III Network.Genetics in medicine : official journal of the American College of Medical Genetics · 2022Article
- Perceived Utility of Genomic Sequencing: Qualitative Analysis and Synthesis of a Conceptual Model to Inform Patient-Centered Instrument Development.The patient · 2022Review
33 more citing papers are in PubMed but not listed here.
Corrections and comments
- Erratum issued
Authors and funding
65 authors.
Robert C GreenDivision of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, MA 02115, USA; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Harvard Medical School, Boston, MA 02115, USA; Partners Personalized Medicine, Boston, MA 02139, USA. Electronic address: rcgreen@genetics.med.harvard.edu.
Katrina A B GoddardCenter for Health Research, Kaiser Permanente Northwest, Portland, OR 97227, USA.
Gail P JarvikDepartment of Genome Sciences, University of Washington, Seattle, WA 98195, USA; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA; Clinical Sequencing Exploratory Research Coordinating Center, University of Washington, Seattle, WA 98195, USA.
Laura M AmendolaDivision of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA; Clinical Sequencing Exploratory Research Coordinating Center, University of Washington, Seattle, WA 98195, USA.
Paul S AppelbaumDepartment of Psychiatry, Columbia University Medical Center and New York State Psychiatric Institute, New York, NY 10032, USA.
Jonathan S BergDepartment of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
Barbara A BernhardtDivision of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Leslie G BieseckerMedical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.
Sawona BiswasDivision of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA; Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Carrie L BloutDivision of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, MA 02115, USA.
Kevin M BowlingHudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.
Kyle B BrothersDepartment of Pediatrics, University of Louisville, Louisville, KY 40202, USA.
Wylie BurkeDivision of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA; Clinical Sequencing Exploratory Research Coordinating Center, University of Washington, Seattle, WA 98195, USA; Department of Bioethics and Humanities, Department of Medicine, University of Washington, Seattle, WA 98195, USA.
Charlisse F Caga-AnanNational Cancer Institute, NIH, Bethesda, MD 20892, USA.
Arul M ChinnaiyanMichigan Center for Translational Pathology, Ann Arbor, MI 48109, USA; Comprehensive Cancer Center, University of Michigan, Ann Arbor, MI 48109, USA; Departments of Pathology and Urology, University of Michigan, Ann Arbor, MI 48109, USA; Howard Hughes Medical Institute, Ann Arbor, MI 48109, USA.
Wendy K ChungDepartment of Pediatrics, Columbia University, New York, NY 10029, USA; Department of Medicine, Columbia University Medical Center, New York, NY 10032, USA.
Ellen W ClaytonCenter for Biomedical Ethics and Society, Vanderbilt University, Nashville, TN 37203, USA.
Gregory M CooperHudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.
Kelly EastHudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.
James P EvansDepartment of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
Stephanie M FullertonDepartment of Bioethics and Humanities, Department of Medicine, University of Washington, Seattle, WA 98195, USA.
Levi A GarrawayBroad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Department of Medical Oncology and Center for Cancer Precision Medicine, Dana-Farber Cancer Institute, Boston, MA 02115, USA; Department of Medicine, Brigham and Women's Hospital, Boston, MA 02115, USA.
Jeremy R GarrettChildren's Mercy Bioethics Center, Children's Mercy Hospital, Kansas City, MO 64108, USA; Departments of Pediatrics and Philosophy, University of Missouri - Kansas City, Kansas City, MO 64110, USA.
Stacy W GrayHarvard Medical School, Boston, MA 02115, USA; Dana-Farber Cancer Institute, Boston, MA 02115, USA.
Gail E HendersonDepartment of Social Medicine, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
Lucia A HindorffDivision of Genomic Medicine, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.
Ingrid A HolmHarvard Medical School, Boston, MA 02115, USA; Division of Genetics and Genomics and the Manton Center for Orphan Diseases Research, Boston Children's Hospital, Boston, MA 02115, USA.
Michelle Huckaby LewisBerman Institute of Bioethics, Johns Hopkins, Baltimore, MD 21205, USA.
Carolyn M HutterDivision of Genomic Medicine, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.
Pasi A JanneHarvard Medical School, Boston, MA 02115, USA; Dana-Farber Cancer Institute, Boston, MA 02115, USA.
Steven JoffeDepartment of Medical Ethics & Health Policy, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.
David KaufmanDivision of Genomics and Society, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.
Bartha M KnoppersCentre of Genomics and Policy, Faculty of Medicine, Department of Human Genetics, McGill University, Montreal, QC H3A 1B1, Canada.
Barbara A KoenigInstitute for Health and Aging, University of California, San Francisco, San Francisco, CA 94118, USA.
Ian D KrantzDivision of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA; Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Teri A ManolioDivision of Genomic Medicine, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.
Laurence McCulloughCenter for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, TX 77030, USA.
Jean McEwenDivision of Genomics and Society, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.
Amy McGuireCenter for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, TX 77030, USA.
Donna MuznyHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
Richard M MyersHudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.
Deborah A NickersonDepartment of Genome Sciences, University of Washington, Seattle, WA 98195, USA; Clinical Sequencing Exploratory Research Coordinating Center, University of Washington, Seattle, WA 98195, USA.
Jeffrey OuDivision of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA; Clinical Sequencing Exploratory Research Coordinating Center, University of Washington, Seattle, WA 98195, USA.
Donald W ParsonsBaylor College of Medicine and Texas Children's Cancer Center, Houston, TX 77030, USA.
Gloria M PetersenDepartment of Health Sciences Research, Mayo Clinic College of Medicine, Rochester, MN 55905, USA.
Sharon E PlonBaylor College of Medicine and Texas Children's Cancer Center, Houston, TX 77030, USA.
Heidi L RehmBroad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Harvard Medical School, Boston, MA 02115, USA; Partners Personalized Medicine, Boston, MA 02139, USA; Laboratory for Molecular Medicine, Partners HealthCare, Cambridge, MA 02139, USA.
J Scott RobertsDepartment of Health Behavior & Health Education, University of Michigan School of Public Health, Ann Arbor, MI 48109, USA.
Dan RobinsonMichigan Center for Translational Pathology, Ann Arbor, MI 48109, USA.
Joseph S SalamaDivision of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA; Clinical Sequencing Exploratory Research Coordinating Center, University of Washington, Seattle, WA 98195, USA.
Sarah ScollonDepartment of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.
Richard R SharpBiomedical Ethics Research Program, Mayo Clinic College of Medicine, Rochester, MN 55905, USA.
Brian ShirtsDepartment of Laboratory Medicine, University of Washington, Seattle, WA 98195, USA.
Nancy B SpinnerDivision of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Holly K TaborDepartment of Pediatrics and Seattle Children's Research Institute, University of Washington, Seattle, WA, USA.
Peter Tarczy-HornochDivision of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA; University of Washington, Seattle, WA 98105, USA.
David L VeenstraDepartment of Pharmacy, University of Washington, Seattle, WA 98195, USA.
Nikhil WagleBroad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Department of Medical Oncology and Center for Cancer Precision Medicine, Dana-Farber Cancer Institute, Boston, MA 02115, USA; Department of Medicine, Brigham and Women's Hospital, Boston, MA 02115, USA.
Karen WeckDepartment of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA; Department of Pathology and Laboratory Medicine, University of North Carolina at Chapel Hill, NC 27599, USA.
Benjamin S WilfondDepartment of Pediatrics and Seattle Children's Research Institute, University of Washington, Seattle, WA, USA.
Kirk WilhelmsenDepartment of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
Susan M WolfLaw School, Medical School, and Consortium on Law and Values in Health, Environment, & the Life Sciences, Minneapolis, University of Minnesota, MN 55455, USA.
Julia WynnDepartment of Pediatrics, Columbia University, New York, NY 10029, USA.
Joon-Ho YuDepartment of Pediatrics, University of Washington, Seattle, WA 98195, USA.
CSER Consortium
Funding
The Human Genome Sequencing CenterU54HG003273 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI GIBBS, RICHARD A · 2004 to 2015
$341.3MTransform Dissemination and Implementation Science in CTSA ProgramsUL1TR002319 · NCATS · UNIVERSITY OF WASHINGTON · PI John K. Amory · 2017 to 2026
$100.0MInstitute of Translational Health SciencesUL1TR000423 · NCATS · UNIVERSITY OF WASHINGTON · PI DISIS, MARY L. · 2012 to 2016
$49.4MResource ProjectU41HG006834 · NHGRI · BRIGHAM AND WOMEN'S HOSPITAL · PI REHM, HEIDI L · 2013 to 2020
$26.9MNorth Carolina Clinical Genomic Evaluation by Next-gen Exome Sequencing 2U01HG006487 · NHGRI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI BERG, JONATHAN S, POWELL, BRADFORD C. · 2012 to 2021
$22.7MMeasuring Perceptions of Utility of Clinical Genome Sequencing: Instrument Testing and ValidationU01HG006485 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI MCGUIRE, AMY L, PARSONS, DONALD W. · 2012 to 2021
$22.1MGenomic Basis of Susceptibility to COVID-19 Infection and its ComplicationsU01HG006379 · NHGRI · MAYO CLINIC ROCHESTER · PI Richard R. Sharp · 2011 to 2026
$16.5MSharing Aggregate Genomics Research Findings with Diverse Participants: A Pilot Study of an Innovative Design StrategyU01HG009599 · NHGRI · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI KOENIG, BARBARA A., KWOK, PUI-YAN · 2017 to 2021
$16.3MExome sequencing in Diverse Populations in Colorado & OregonU01HG007292 · NHGRI · KAISER FOUNDATION RESEARCH INSTITUTE · PI LEO, MICHAEL C, WILFOND, BENJAMIN SIMON · 2017 to 2021
$15.7MGenomic Ascertainment - Clinical and Behavioral AspectsZIAHG200387 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI BIESECKER, LESLIE · 2013 to 2025
$15.5MFinding Genomic Profiles of COVID-19 Phenotypes from the EHRU01HG008685 · NHGRI · BRIGHAM AND WOMEN'S HOSPITAL · PI ELIZABETH W KARLSON, Matthew S Lebo · 2015 to 2026
$13.6MIntegration of Whole Genome Sequencing into Clinical MedicineU01HG006500 · NHGRI · BRIGHAM AND WOMEN'S HOSPITAL · PI GREEN, ROBERT C. · 2012 to 2016
$11.5MNCATS NIH HHS UL1 TR000423NCATS NIH HHS UL1 TR002319NCI NIH HHS R01 CA154517NHGRI NIH HHS K99 HG007076NHGRI NIH HHS P20 HG007243NHGRI NIH HHS P50 HG007257NHGRI NIH HHS R01 HG004500NHGRI NIH HHS R01 HG006600NHGRI NIH HHS R01 HG006615NHGRI NIH HHS R01 HG006618NHGRI NIH HHS R01 HG007063NHGRI NIH HHS R21 HG006594NHGRI NIH HHS R21 HG006596NHGRI NIH HHS R21 HG006612NHGRI NIH HHS R21 HG006613NHGRI NIH HHS U01 HG006379NHGRI NIH HHS U01 HG006485NHGRI NIH HHS U01 HG006487NHGRI NIH HHS U01 HG006492NHGRI NIH HHS U01 HG006500NHGRI NIH HHS U01 HG006507NHGRI NIH HHS U01 HG006546NHGRI NIH HHS U01 HG007292NHGRI NIH HHS U01 HG007307NHGRI NIH HHS U01 HG008685NHGRI NIH HHS U01 HG009599NHGRI NIH HHS U24 HG007307NHGRI NIH HHS U41 HG006834NHGRI NIH HHS U54 HG003273NHGRI NIH HHS UM1 HG006508NHGRI NIH HHS UM1 HG007292NHGRI NIH HHS UM1 HG007301NIA NIH HHS U01 AG047109NIMH NIH HHS R01 MH107205
Abstract
Despite rapid technical progress and demonstrable effectiveness for some types of diagnosis and therapy, much remains to be learned about clinical genome and exome sequencing (CGES) and its role within the practice of medicine. The Clinical Sequencing Exploratory Research (CSER) consortium includes 18 extramural research projects, one National Human Genome Research Institute (NHGRI) intramural project, and a coordinating center funded by the NHGRI and National Cancer Institute. The consortium is exploring analytic and clinical validity and utility, as well as the ethical, legal, and social implications of sequencing via multidisciplinary approaches; it has thus far recruited 5,577 participants across a spectrum of symptomatic and healthy children and adults by utilizing both germline and cancer sequencing. The CSER consortium is analyzing data and creating publically available procedures and tools related to participant preferences and consent, variant classification, disclosure and management of primary and secondary findings, health outcomes, and integration with electronic health records. Future research directions will refine measures of clinical utility of CGES in both germline and somatic testing, evaluate the use of CGES for screening in healthy individuals, explore the penetrance of pathogenic variants through extensive phenotyping, reduce discordances in public databases of genes and variants, examine social and ethnic disparities in the provision of genomics services, explore regulatory issues, and estimate the value and downstream costs of sequencing. The CSER consortium has established a shared community of research sites by using diverse approaches to pursue the evidence-based development of best practices in genomic medicine.
Indexed as
Biomedical ResearchEvidence-Based PracticeGenome, HumanAdultCardiovascular DiseasesChildClinical Trials as TopicExomeGenomicsHigh-Throughput Nucleotide SequencingHumansNational Human Genome Research Institute (U.S.)Polymorphism, Single NucleotidePopulation GroupsSoftwareUnited States
Identifiers
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Registered trials
NCT03276637ClinicalTrials.gov
NCT04331535ClinicalTrials.gov
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.