ReviewCirculation. Genomic and precision medicine2018
Functional Assays to Screen and Dissect Genomic Hits: Doubling Down on the National Investment in Genomic Research.
Abstract readReview
In one paragraph
Review in Circulation. Genomic and precision medicine, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
0numbers the graph read from it
0cells of the map it votes in
14citing papers in PubMed
1.6field-weighted citation impact, top 17% of its field
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
14 citing papers in PubMed, 20 citations in OpenAlex.
- The Complexities of Interspecies Somatic Cell Nuclear Transfer: From Biological and Molecular Insights to Future Perspectives.International journal of molecular sciences · 2025Review
- The grand challenge of discovering new cardiovascular drugs.Frontiers in drug discovery · 2022Article
- RARG variant predictive of doxorubicin-induced cardiotoxicity identifies a cardioprotective therapy.Cell stem cell · 2021Article
- Identifying adaptive alleles in the human genome: from selection mapping to functional validation.Human genetics · 2021Review
- Molecular networks in Network Medicine: Development and applications.Wiley interdisciplinary reviews. Systems biology and medicine · 2020Review
- Functional Genomics ofAmerican journal of respiratory cell and molecular biology · 2020Article
- PhenomeXcan: Mapping the genome to the phenome through the transcriptome.Science advances · 2020Article
- Barriers to Implementing Clinical Pharmacogenetics Testing in Sub-Saharan Africa. A Critical Review.Pharmaceutics · 2020Review
- Review
- The Bardet-Biedl syndrome protein complex regulates cell migration and tissue repair through a Cullin-3/RhoA pathway.American journal of physiology. Cell physiology · 2019Article
- Conservation and divergence of protein pathways in the vertebrate heart.PLoS biology · 2019Article
- Genetic Insights Into Smooth Muscle Cell Contributions to Coronary Artery Disease.Arteriosclerosis, thrombosis, and vascular biology · 2019Review
- The Transcriptomic Toolbox: Resources for Interpreting Large Gene Expression Data within a Precision Medicine Context for Metabolic Disease Atherosclerosis.Journal of personalized medicine · 2019Article
- Applying Functional Genomics to Chronic Obstructive Pulmonary Disease.Annals of the American Thoracic Society · 2018Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
15 authors at 1 institution in 1 country.
Kiran MusunuruCardiovascular Institute, Department of Medicine (K.M.), Department of Genetics (K.M.), and Department of Pathology and Laboratory Medicine (F.S.L.), Perelman School of Medicine at the University of Pennsylvania, Philadelphia. Department of Pediatrics (D.B.), Cardiovascular Institute (D.B., T.Q.), and Department of Medicine (T.Q.), Stanford University, CA. Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, MO (F.S.C.). St. Louis Children's Hospital, MO (F.S.C.). Pediatric Genomics Discovery Program, Department of Pediatrics and Genetics, Yale University School of Medicine, New Haven, CT (M.K.K.). Division of Cardiology, Department of Medicine, University of Washington, Seattle (S.L.). Department of Cardiovascular Sciences, University of South Florida Morsani College of Medicine, Tampa, FL (T.V.M.). Department of Pediatrics (I.P.M.), Department of Pathology (I.P.M.), and Department of Human Genetics (I.P.M.), The University of Chicago, IL. Division of Hematology/ Oncology, Boston Children's Hospital, MA (V.G.S.). Department of Pediatric Oncology, Dana-Farber Cancer Institute (V.G.S.) and Channing Division of Network Medicine, Brigham and Women's Hospital (E.K.S., X.Z.), Harvard Medical School, Boston. Broad Institute of MIT and Harvard, Cambridge, MA (V.G.S.). University of Colorado, Aurora (D.A.S.). Division of Cardiovascular Sciences, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD (A.A.K.H., X.-z.J.L.). kiranmusunuru@gmail.com luoja@nih.gov.
Daniel BernsteinCardiovascular Institute, Department of Medicine (K.M.), Department of Genetics (K.M.), and Department of Pathology and Laboratory Medicine (F.S.L.), Perelman School of Medicine at the University of Pennsylvania, Philadelphia. Department of Pediatrics (D.B.), Cardiovascular Institute (D.B., T.Q.), and Department of Medicine (T.Q.), Stanford University, CA. Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, MO (F.S.C.). St. Louis Children's Hospital, MO (F.S.C.). Pediatric Genomics Discovery Program, Department of Pediatrics and Genetics, Yale University School of Medicine, New Haven, CT (M.K.K.). Division of Cardiology, Department of Medicine, University of Washington, Seattle (S.L.). Department of Cardiovascular Sciences, University of South Florida Morsani College of Medicine, Tampa, FL (T.V.M.). Department of Pediatrics (I.P.M.), Department of Pathology (I.P.M.), and Department of Human Genetics (I.P.M.), The University of Chicago, IL. Division of Hematology/ Oncology, Boston Children's Hospital, MA (V.G.S.). Department of Pediatric Oncology, Dana-Farber Cancer Institute (V.G.S.) and Channing Division of Network Medicine, Brigham and Women's Hospital (E.K.S., X.Z.), Harvard Medical School, Boston. Broad Institute of MIT and Harvard, Cambridge, MA (V.G.S.). University of Colorado, Aurora (D.A.S.). Division of Cardiovascular Sciences, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD (A.A.K.H., X.-z.J.L.).
F Sessions ColeCardiovascular Institute, Department of Medicine (K.M.), Department of Genetics (K.M.), and Department of Pathology and Laboratory Medicine (F.S.L.), Perelman School of Medicine at the University of Pennsylvania, Philadelphia. Department of Pediatrics (D.B.), Cardiovascular Institute (D.B., T.Q.), and Department of Medicine (T.Q.), Stanford University, CA. Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, MO (F.S.C.). St. Louis Children's Hospital, MO (F.S.C.). Pediatric Genomics Discovery Program, Department of Pediatrics and Genetics, Yale University School of Medicine, New Haven, CT (M.K.K.). Division of Cardiology, Department of Medicine, University of Washington, Seattle (S.L.). Department of Cardiovascular Sciences, University of South Florida Morsani College of Medicine, Tampa, FL (T.V.M.). Department of Pediatrics (I.P.M.), Department of Pathology (I.P.M.), and Department of Human Genetics (I.P.M.), The University of Chicago, IL. Division of Hematology/ Oncology, Boston Children's Hospital, MA (V.G.S.). Department of Pediatric Oncology, Dana-Farber Cancer Institute (V.G.S.) and Channing Division of Network Medicine, Brigham and Women's Hospital (E.K.S., X.Z.), Harvard Medical School, Boston. Broad Institute of MIT and Harvard, Cambridge, MA (V.G.S.). University of Colorado, Aurora (D.A.S.). Division of Cardiovascular Sciences, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD (A.A.K.H., X.-z.J.L.).
Mustafa K KhokhaCardiovascular Institute, Department of Medicine (K.M.), Department of Genetics (K.M.), and Department of Pathology and Laboratory Medicine (F.S.L.), Perelman School of Medicine at the University of Pennsylvania, Philadelphia. Department of Pediatrics (D.B.), Cardiovascular Institute (D.B., T.Q.), and Department of Medicine (T.Q.), Stanford University, CA. Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, MO (F.S.C.). St. Louis Children's Hospital, MO (F.S.C.). Pediatric Genomics Discovery Program, Department of Pediatrics and Genetics, Yale University School of Medicine, New Haven, CT (M.K.K.). Division of Cardiology, Department of Medicine, University of Washington, Seattle (S.L.). Department of Cardiovascular Sciences, University of South Florida Morsani College of Medicine, Tampa, FL (T.V.M.). Department of Pediatrics (I.P.M.), Department of Pathology (I.P.M.), and Department of Human Genetics (I.P.M.), The University of Chicago, IL. Division of Hematology/ Oncology, Boston Children's Hospital, MA (V.G.S.). Department of Pediatric Oncology, Dana-Farber Cancer Institute (V.G.S.) and Channing Division of Network Medicine, Brigham and Women's Hospital (E.K.S., X.Z.), Harvard Medical School, Boston. Broad Institute of MIT and Harvard, Cambridge, MA (V.G.S.). University of Colorado, Aurora (D.A.S.). Division of Cardiovascular Sciences, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD (A.A.K.H., X.-z.J.L.).
Frank S LeeCardiovascular Institute, Department of Medicine (K.M.), Department of Genetics (K.M.), and Department of Pathology and Laboratory Medicine (F.S.L.), Perelman School of Medicine at the University of Pennsylvania, Philadelphia. Department of Pediatrics (D.B.), Cardiovascular Institute (D.B., T.Q.), and Department of Medicine (T.Q.), Stanford University, CA. Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, MO (F.S.C.). St. Louis Children's Hospital, MO (F.S.C.). Pediatric Genomics Discovery Program, Department of Pediatrics and Genetics, Yale University School of Medicine, New Haven, CT (M.K.K.). Division of Cardiology, Department of Medicine, University of Washington, Seattle (S.L.). Department of Cardiovascular Sciences, University of South Florida Morsani College of Medicine, Tampa, FL (T.V.M.). Department of Pediatrics (I.P.M.), Department of Pathology (I.P.M.), and Department of Human Genetics (I.P.M.), The University of Chicago, IL. Division of Hematology/ Oncology, Boston Children's Hospital, MA (V.G.S.). Department of Pediatric Oncology, Dana-Farber Cancer Institute (V.G.S.) and Channing Division of Network Medicine, Brigham and Women's Hospital (E.K.S., X.Z.), Harvard Medical School, Boston. Broad Institute of MIT and Harvard, Cambridge, MA (V.G.S.). University of Colorado, Aurora (D.A.S.). Division of Cardiovascular Sciences, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD (A.A.K.H., X.-z.J.L.).
Shin LinCardiovascular Institute, Department of Medicine (K.M.), Department of Genetics (K.M.), and Department of Pathology and Laboratory Medicine (F.S.L.), Perelman School of Medicine at the University of Pennsylvania, Philadelphia. Department of Pediatrics (D.B.), Cardiovascular Institute (D.B., T.Q.), and Department of Medicine (T.Q.), Stanford University, CA. Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, MO (F.S.C.). St. Louis Children's Hospital, MO (F.S.C.). Pediatric Genomics Discovery Program, Department of Pediatrics and Genetics, Yale University School of Medicine, New Haven, CT (M.K.K.). Division of Cardiology, Department of Medicine, University of Washington, Seattle (S.L.). Department of Cardiovascular Sciences, University of South Florida Morsani College of Medicine, Tampa, FL (T.V.M.). Department of Pediatrics (I.P.M.), Department of Pathology (I.P.M.), and Department of Human Genetics (I.P.M.), The University of Chicago, IL. Division of Hematology/ Oncology, Boston Children's Hospital, MA (V.G.S.). Department of Pediatric Oncology, Dana-Farber Cancer Institute (V.G.S.) and Channing Division of Network Medicine, Brigham and Women's Hospital (E.K.S., X.Z.), Harvard Medical School, Boston. Broad Institute of MIT and Harvard, Cambridge, MA (V.G.S.). University of Colorado, Aurora (D.A.S.). Division of Cardiovascular Sciences, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD (A.A.K.H., X.-z.J.L.).
Thomas V McDonaldCardiovascular Institute, Department of Medicine (K.M.), Department of Genetics (K.M.), and Department of Pathology and Laboratory Medicine (F.S.L.), Perelman School of Medicine at the University of Pennsylvania, Philadelphia. Department of Pediatrics (D.B.), Cardiovascular Institute (D.B., T.Q.), and Department of Medicine (T.Q.), Stanford University, CA. Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, MO (F.S.C.). St. Louis Children's Hospital, MO (F.S.C.). Pediatric Genomics Discovery Program, Department of Pediatrics and Genetics, Yale University School of Medicine, New Haven, CT (M.K.K.). Division of Cardiology, Department of Medicine, University of Washington, Seattle (S.L.). Department of Cardiovascular Sciences, University of South Florida Morsani College of Medicine, Tampa, FL (T.V.M.). Department of Pediatrics (I.P.M.), Department of Pathology (I.P.M.), and Department of Human Genetics (I.P.M.), The University of Chicago, IL. Division of Hematology/ Oncology, Boston Children's Hospital, MA (V.G.S.). Department of Pediatric Oncology, Dana-Farber Cancer Institute (V.G.S.) and Channing Division of Network Medicine, Brigham and Women's Hospital (E.K.S., X.Z.), Harvard Medical School, Boston. Broad Institute of MIT and Harvard, Cambridge, MA (V.G.S.). University of Colorado, Aurora (D.A.S.). Division of Cardiovascular Sciences, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD (A.A.K.H., X.-z.J.L.).
Ivan P MoskowitzCardiovascular Institute, Department of Medicine (K.M.), Department of Genetics (K.M.), and Department of Pathology and Laboratory Medicine (F.S.L.), Perelman School of Medicine at the University of Pennsylvania, Philadelphia. Department of Pediatrics (D.B.), Cardiovascular Institute (D.B., T.Q.), and Department of Medicine (T.Q.), Stanford University, CA. Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, MO (F.S.C.). St. Louis Children's Hospital, MO (F.S.C.). Pediatric Genomics Discovery Program, Department of Pediatrics and Genetics, Yale University School of Medicine, New Haven, CT (M.K.K.). Division of Cardiology, Department of Medicine, University of Washington, Seattle (S.L.). Department of Cardiovascular Sciences, University of South Florida Morsani College of Medicine, Tampa, FL (T.V.M.). Department of Pediatrics (I.P.M.), Department of Pathology (I.P.M.), and Department of Human Genetics (I.P.M.), The University of Chicago, IL. Division of Hematology/ Oncology, Boston Children's Hospital, MA (V.G.S.). Department of Pediatric Oncology, Dana-Farber Cancer Institute (V.G.S.) and Channing Division of Network Medicine, Brigham and Women's Hospital (E.K.S., X.Z.), Harvard Medical School, Boston. Broad Institute of MIT and Harvard, Cambridge, MA (V.G.S.). University of Colorado, Aurora (D.A.S.). Division of Cardiovascular Sciences, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD (A.A.K.H., X.-z.J.L.).
Thomas QuertermousCardiovascular Institute, Department of Medicine (K.M.), Department of Genetics (K.M.), and Department of Pathology and Laboratory Medicine (F.S.L.), Perelman School of Medicine at the University of Pennsylvania, Philadelphia. Department of Pediatrics (D.B.), Cardiovascular Institute (D.B., T.Q.), and Department of Medicine (T.Q.), Stanford University, CA. Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, MO (F.S.C.). St. Louis Children's Hospital, MO (F.S.C.). Pediatric Genomics Discovery Program, Department of Pediatrics and Genetics, Yale University School of Medicine, New Haven, CT (M.K.K.). Division of Cardiology, Department of Medicine, University of Washington, Seattle (S.L.). Department of Cardiovascular Sciences, University of South Florida Morsani College of Medicine, Tampa, FL (T.V.M.). Department of Pediatrics (I.P.M.), Department of Pathology (I.P.M.), and Department of Human Genetics (I.P.M.), The University of Chicago, IL. Division of Hematology/ Oncology, Boston Children's Hospital, MA (V.G.S.). Department of Pediatric Oncology, Dana-Farber Cancer Institute (V.G.S.) and Channing Division of Network Medicine, Brigham and Women's Hospital (E.K.S., X.Z.), Harvard Medical School, Boston. Broad Institute of MIT and Harvard, Cambridge, MA (V.G.S.). University of Colorado, Aurora (D.A.S.). Division of Cardiovascular Sciences, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD (A.A.K.H., X.-z.J.L.).
Vijay G SankaranCardiovascular Institute, Department of Medicine (K.M.), Department of Genetics (K.M.), and Department of Pathology and Laboratory Medicine (F.S.L.), Perelman School of Medicine at the University of Pennsylvania, Philadelphia. Department of Pediatrics (D.B.), Cardiovascular Institute (D.B., T.Q.), and Department of Medicine (T.Q.), Stanford University, CA. Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, MO (F.S.C.). St. Louis Children's Hospital, MO (F.S.C.). Pediatric Genomics Discovery Program, Department of Pediatrics and Genetics, Yale University School of Medicine, New Haven, CT (M.K.K.). Division of Cardiology, Department of Medicine, University of Washington, Seattle (S.L.). Department of Cardiovascular Sciences, University of South Florida Morsani College of Medicine, Tampa, FL (T.V.M.). Department of Pediatrics (I.P.M.), Department of Pathology (I.P.M.), and Department of Human Genetics (I.P.M.), The University of Chicago, IL. Division of Hematology/ Oncology, Boston Children's Hospital, MA (V.G.S.). Department of Pediatric Oncology, Dana-Farber Cancer Institute (V.G.S.) and Channing Division of Network Medicine, Brigham and Women's Hospital (E.K.S., X.Z.), Harvard Medical School, Boston. Broad Institute of MIT and Harvard, Cambridge, MA (V.G.S.). University of Colorado, Aurora (D.A.S.). Division of Cardiovascular Sciences, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD (A.A.K.H., X.-z.J.L.).
David A SchwartzCardiovascular Institute, Department of Medicine (K.M.), Department of Genetics (K.M.), and Department of Pathology and Laboratory Medicine (F.S.L.), Perelman School of Medicine at the University of Pennsylvania, Philadelphia. Department of Pediatrics (D.B.), Cardiovascular Institute (D.B., T.Q.), and Department of Medicine (T.Q.), Stanford University, CA. Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, MO (F.S.C.). St. Louis Children's Hospital, MO (F.S.C.). Pediatric Genomics Discovery Program, Department of Pediatrics and Genetics, Yale University School of Medicine, New Haven, CT (M.K.K.). Division of Cardiology, Department of Medicine, University of Washington, Seattle (S.L.). Department of Cardiovascular Sciences, University of South Florida Morsani College of Medicine, Tampa, FL (T.V.M.). Department of Pediatrics (I.P.M.), Department of Pathology (I.P.M.), and Department of Human Genetics (I.P.M.), The University of Chicago, IL. Division of Hematology/ Oncology, Boston Children's Hospital, MA (V.G.S.). Department of Pediatric Oncology, Dana-Farber Cancer Institute (V.G.S.) and Channing Division of Network Medicine, Brigham and Women's Hospital (E.K.S., X.Z.), Harvard Medical School, Boston. Broad Institute of MIT and Harvard, Cambridge, MA (V.G.S.). University of Colorado, Aurora (D.A.S.). Division of Cardiovascular Sciences, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD (A.A.K.H., X.-z.J.L.).
Edwin K SilvermanCardiovascular Institute, Department of Medicine (K.M.), Department of Genetics (K.M.), and Department of Pathology and Laboratory Medicine (F.S.L.), Perelman School of Medicine at the University of Pennsylvania, Philadelphia. Department of Pediatrics (D.B.), Cardiovascular Institute (D.B., T.Q.), and Department of Medicine (T.Q.), Stanford University, CA. Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, MO (F.S.C.). St. Louis Children's Hospital, MO (F.S.C.). Pediatric Genomics Discovery Program, Department of Pediatrics and Genetics, Yale University School of Medicine, New Haven, CT (M.K.K.). Division of Cardiology, Department of Medicine, University of Washington, Seattle (S.L.). Department of Cardiovascular Sciences, University of South Florida Morsani College of Medicine, Tampa, FL (T.V.M.). Department of Pediatrics (I.P.M.), Department of Pathology (I.P.M.), and Department of Human Genetics (I.P.M.), The University of Chicago, IL. Division of Hematology/ Oncology, Boston Children's Hospital, MA (V.G.S.). Department of Pediatric Oncology, Dana-Farber Cancer Institute (V.G.S.) and Channing Division of Network Medicine, Brigham and Women's Hospital (E.K.S., X.Z.), Harvard Medical School, Boston. Broad Institute of MIT and Harvard, Cambridge, MA (V.G.S.). University of Colorado, Aurora (D.A.S.). Division of Cardiovascular Sciences, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD (A.A.K.H., X.-z.J.L.).
Xiaobo ZhouCardiovascular Institute, Department of Medicine (K.M.), Department of Genetics (K.M.), and Department of Pathology and Laboratory Medicine (F.S.L.), Perelman School of Medicine at the University of Pennsylvania, Philadelphia. Department of Pediatrics (D.B.), Cardiovascular Institute (D.B., T.Q.), and Department of Medicine (T.Q.), Stanford University, CA. Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, MO (F.S.C.). St. Louis Children's Hospital, MO (F.S.C.). Pediatric Genomics Discovery Program, Department of Pediatrics and Genetics, Yale University School of Medicine, New Haven, CT (M.K.K.). Division of Cardiology, Department of Medicine, University of Washington, Seattle (S.L.). Department of Cardiovascular Sciences, University of South Florida Morsani College of Medicine, Tampa, FL (T.V.M.). Department of Pediatrics (I.P.M.), Department of Pathology (I.P.M.), and Department of Human Genetics (I.P.M.), The University of Chicago, IL. Division of Hematology/ Oncology, Boston Children's Hospital, MA (V.G.S.). Department of Pediatric Oncology, Dana-Farber Cancer Institute (V.G.S.) and Channing Division of Network Medicine, Brigham and Women's Hospital (E.K.S., X.Z.), Harvard Medical School, Boston. Broad Institute of MIT and Harvard, Cambridge, MA (V.G.S.). University of Colorado, Aurora (D.A.S.). Division of Cardiovascular Sciences, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD (A.A.K.H., X.-z.J.L.).
Ahmed A K HasanCardiovascular Institute, Department of Medicine (K.M.), Department of Genetics (K.M.), and Department of Pathology and Laboratory Medicine (F.S.L.), Perelman School of Medicine at the University of Pennsylvania, Philadelphia. Department of Pediatrics (D.B.), Cardiovascular Institute (D.B., T.Q.), and Department of Medicine (T.Q.), Stanford University, CA. Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, MO (F.S.C.). St. Louis Children's Hospital, MO (F.S.C.). Pediatric Genomics Discovery Program, Department of Pediatrics and Genetics, Yale University School of Medicine, New Haven, CT (M.K.K.). Division of Cardiology, Department of Medicine, University of Washington, Seattle (S.L.). Department of Cardiovascular Sciences, University of South Florida Morsani College of Medicine, Tampa, FL (T.V.M.). Department of Pediatrics (I.P.M.), Department of Pathology (I.P.M.), and Department of Human Genetics (I.P.M.), The University of Chicago, IL. Division of Hematology/ Oncology, Boston Children's Hospital, MA (V.G.S.). Department of Pediatric Oncology, Dana-Farber Cancer Institute (V.G.S.) and Channing Division of Network Medicine, Brigham and Women's Hospital (E.K.S., X.Z.), Harvard Medical School, Boston. Broad Institute of MIT and Harvard, Cambridge, MA (V.G.S.). University of Colorado, Aurora (D.A.S.). Division of Cardiovascular Sciences, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD (A.A.K.H., X.-z.J.L.).
Xiao-Zhong James LuoCardiovascular Institute, Department of Medicine (K.M.), Department of Genetics (K.M.), and Department of Pathology and Laboratory Medicine (F.S.L.), Perelman School of Medicine at the University of Pennsylvania, Philadelphia. Department of Pediatrics (D.B.), Cardiovascular Institute (D.B., T.Q.), and Department of Medicine (T.Q.), Stanford University, CA. Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, MO (F.S.C.). St. Louis Children's Hospital, MO (F.S.C.). Pediatric Genomics Discovery Program, Department of Pediatrics and Genetics, Yale University School of Medicine, New Haven, CT (M.K.K.). Division of Cardiology, Department of Medicine, University of Washington, Seattle (S.L.). Department of Cardiovascular Sciences, University of South Florida Morsani College of Medicine, Tampa, FL (T.V.M.). Department of Pediatrics (I.P.M.), Department of Pathology (I.P.M.), and Department of Human Genetics (I.P.M.), The University of Chicago, IL. Division of Hematology/ Oncology, Boston Children's Hospital, MA (V.G.S.). Department of Pediatric Oncology, Dana-Farber Cancer Institute (V.G.S.) and Channing Division of Network Medicine, Brigham and Women's Hospital (E.K.S., X.Z.), Harvard Medical School, Boston. Broad Institute of MIT and Harvard, Cambridge, MA (V.G.S.). University of Colorado, Aurora (D.A.S.). Division of Cardiovascular Sciences, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD (A.A.K.H., X.-z.J.L.).
Mallinckrodt (United States) · US
Funding
Role of Genetics in Idiopathic Pulmonary Fibrosis (IPF)R01HL097163 · NHLBI · UNIVERSITY OF COLORADO DENVER · PI FINGERLIN, TASHA E., SCHWARTZ, DAVID ALBERT · 2009 to 2018
$16.4MSystems Biology of Airway DiseaseP01HL132825 · NHLBI · BRIGHAM AND WOMEN'S HOSPITAL · PI WEISS, SCOTT T · 2016 to 2020
$12.6MFunctional Genetics in Idiopathic Pulmonary FibrosisR33HL120770 · NHLBI · UNIVERSITY OF COLORADO DENVER · PI SCHWARTZ, DAVID ALBERT · 2016 to 2018
$1.6MHigh Altitude Adaptation: A Model for Chronic HypoxiaR33HL120751 · NHLBI · UNIVERSITY OF PENNSYLVANIA · PI LEE, FRANK S · 2016 to 2018
$1.5MLipidomic Screening For Functional Surfactant Gene MutationsR33HL120760 · NHLBI · WASHINGTON UNIVERSITY · PI COLE, FRANCIS SESSIONS · 2016 to 2018
$1.4MHigh-throughput screening and stem cell modeling of causal eQTL variantsR01GM104464 · NIGMS · UNIVERSITY OF PENNSYLVANIA · PI MUSUNURU, KIRAN · 2013 to 2016
$1.3MNHLBI NIH HHS P01 HL132825NHLBI NIH HHS R01 HL097163NHLBI NIH HHS R33 HL120751NHLBI NIH HHS R33 HL120760NHLBI NIH HHS R33 HL120770NIGMS NIH HHS R01 GM104464
Abstract
The National Institutes of Health have made substantial investments in genomic studies and technologies to identify DNA sequence variants associated with human disease phenotypes. The National Heart, Lung, and Blood Institute has been at the forefront of these commitments to ascertain genetic variation associated with heart, lung, blood, and sleep diseases and related clinical traits. Genome-wide association studies, exome- and genome-sequencing studies, and exome-genotyping studies of the National Heart, Lung, and Blood Institute-funded epidemiological and clinical case-control studies are identifying large numbers of genetic variants associated with heart, lung, blood, and sleep phenotypes. However, investigators face challenges in identification of genomic variants that are functionally disruptive among the myriad of computationally implicated variants. Studies to define mechanisms of genetic disruption encoded by computationally identified genomic variants require reproducible, adaptable, and inexpensive methods to screen candidate variant and gene function. High-throughput strategies will permit a tiered variant discovery and genetic mechanism approach that begins with rapid functional screening of a large number of computationally implicated variants and genes for discovery of those that merit mechanistic investigation. As such, improved variant-to-gene and gene-to-function screens-and adequate support for such studies-are critical to accelerating the translation of genomic findings. In this White Paper, we outline the variety of novel technologies, assays, and model systems that are making such screens faster, cheaper, and more accurate, referencing published work and ongoing work supported by the National Heart, Lung, and Blood Institute's R21/R33 Functional Assays to Screen Genomic Hits program. We discuss priorities that can accelerate the impressive but incomplete progress represented by big data genomic research.
Indexed as
Genetic VariationAnimalsCells, CulturedDiffusion of InnovationForecastingGenetic Predisposition to DiseaseGenome-Wide Association StudyGenomicsHigh-Throughput Nucleotide SequencingHumansModels, AnimalNational Heart, Lung, and Blood Institute (U.S.)PhenotypeReproducibility of ResultsRisk FactorsUnited Statesexomegene expressiongenetic techniquesgenome-wide association studieshuman genetics
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