Grant Details
| Grant Number: | 5U24HG009649-08 Interpret this number |
| Primary Investigator: | Plon, Sharon |
| Organization: | Baylor College Of Medicine |
| Project Title: | Baylor College of Medicine/Stanford University Clinical Genome Resource (CLINGEN) |
| Fiscal Year: | 2024 |
Abstract
Project Summary/Abstract The Clinical Genome Resource (ClinGen) is an essential community resource developing clinically relevant genomic knowledge. Three research teams at Harvard/Geisinger, UNC/Kaiser and Baylor College of Medicine/Stanford have worked collaboratively since 2013 to create successful frameworks and software systems for sustained curation of the human genome. The landmark achievement in 2018 of FDA recognition as the first Public Human Genetic Variant Database significantly increased ClinGen's prominence as an innovative genome curation program. ClinGen's strategy has been highly successful: creating the training, framework and oversight for international expert panels (over 1400 members), while generating dynamic user- informed public tools including the ClinGen Curation Interfaces, Allele Registry and Linked Data Hub. This multi- institutional application from Baylor College of Medicine and Stanford University in response to PAR-20-100 Genomic Community Resources to support our ongoing development of the innovative advanced web technologies for software infrastructure that supports ClinGen’s gene, variant and actionability curation efforts. In this application we seek to operate at scale, generating procedures and informatics for high-throughput curation across ClinGen domains. We propose multiple improvements to scale our work through streamlined aggregation and linking of genomic and phenotypic data including sources from diverse populations (Aim 1) semi-automation for gene and variant curation (Aim 2) and actionability curation (Aim 3). We anticipate new facets of clinical genomics including standards for variant classification in hereditary and somatic cancer, forging novel curation approaches including curation of polygenic risk scores (PRS) and modeling curation of complex disorders in HLA-related rheumatologic and autoimmune diseases (Aim 4). We have developed innovative frameworks for appropriate use of ancestry and diversity in clinical genomics, while in parallel working to expand the diversity of the ClinGen workforce and users of ClinGen curated knowledge (Aim 5).
Publications
Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendations.
Authors: Stenton S.L. , Pejaver V. , Bergquist T. , Biesecker L.G. , Byrne A.B. , Nadeau E.A.W. , Greenblatt M.S. , Harrison S.M. , Tavtigian S.V. , Radivojac P. , et al. .
Source: Genetics In Medicine : Official Journal Of The American College Of Medical Genetics, 2024-07-16 00:00:00.0; , p. 101213.
EPub date: 2024-07-16 00:00:00.0.
PMID: 39030733
Related Citations
Curating Genetic Associations With Rheumatologic Autoimmune Diseases to Improve Patient Outcomes.
Authors: Bridges S.L. , Shapira R. , Aksentijevich I. , Mack S.J. , Merriman T.R. , Klein C.J. , Bowen B.M. , Klein T.E. , ClinGen Rheumatologic Autoimmune Disease Clinical Domain Working Group .
Source: Arthritis & Rheumatology (hoboken, N.j.), 2024-07-04 00:00:00.0; , .
EPub date: 2024-07-04 00:00:00.0.
PMID: 38965695
Related Citations
Mapping MAVE data for use in human genomics applications.
Authors: Arbesfeld J.A. , Da E.Y. , Stevenson J.S. , Kuzma K. , Paul A. , Farris T. , Capodanno B.J. , Grindstaff S.B. , Riehle K. , Saraiva-Agostinho N. , et al. .
Source: Biorxiv : The Preprint Server For Biology, 2024-06-30 00:00:00.0; , .
EPub date: 2024-06-30 00:00:00.0.
PMID: 38979347
Related Citations
Adult-Onset Cancer Predisposition Syndromes in Children and Adolescents-To Test or not to Test?
Authors: Kratz C.P. , Lupo P.J. , Zelley K. , Schienda J. , Nichols K.E. , Stewart D.R. , Malkin D. , Brodeur G.M. , Maxwell K. , Plon S.E. , et al. .
Source: Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research, 2024-05-01 00:00:00.0; 30(9), p. 1733-1738.
PMID: 38411636
Related Citations
Minimum information and guidelines for reporting a multiplexed assay of variant effect.
Authors: Claussnitzer M. , Parikh V.N. , Wagner A.H. , Arbesfeld J.A. , Bult C.J. , Firth H.V. , Muffley L.A. , Nguyen Ba A.N. , Riehle K. , Roth F.P. , et al. .
Source: Genome Biology, 2024-04-19 00:00:00.0; 25(1), p. 100.
EPub date: 2024-04-19 00:00:00.0.
PMID: 38641812
Related Citations
Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendations.
Authors: Stenton S.L. , Pejaver V. , Bergquist T. , Biesecker L.G. , Byrne A.B. , Nadeau E. , Greenblatt M.S. , Harrison S. , Tavtigian S. , Radivojac P. , et al. .
Source: Medrxiv : The Preprint Server For Health Sciences, 2024-03-07 00:00:00.0; , .
EPub date: 2024-03-07 00:00:00.0.
PMID: 38496501
Related Citations
Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel.
Authors: Spier I. , Yin X. , Richardson M. , Pineda M. , Laner A. , Ritter D. , Boyle J. , Mur P. , Hansen T.V.O. , Shi X. , et al. .
Source: Genetics In Medicine : Official Journal Of The American College Of Medical Genetics, 2024 Feb; 26(2), p. 100992.
EPub date: 2023-10-04 00:00:00.0.
PMID: 37800450
Related Citations
Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group.
Authors: Schmidt R.J. , Steeves M. , Bayrak-Toydemir P. , Benson K.A. , Coe B.P. , Conlin L.K. , Ganapathi M. , Garcia J. , Gollob M.H. , Jobanputra V. , et al. .
Source: Genetics In Medicine : Official Journal Of The American College Of Medical Genetics, 2023-12-03 00:00:00.0; 26(3), p. 101036.
EPub date: 2023-12-03 00:00:00.0.
PMID: 38054408
Related Citations
Combined Bioinformatic and Splicing Analysis of Likely Benign Intronic and Synonymous Variants Reveals Evidence for Pathogenicity.
Authors: Hirschi O.R. , Felker S.A. , Rednam S.P. , Vallance K.L. , Parsons D.W. , Roy A. , Cooper G.M. , Plon S.E. .
Source: Medrxiv : The Preprint Server For Health Sciences, 2023-11-01 00:00:00.0; , .
EPub date: 2023-11-01 00:00:00.0.
PMID: 37961416
Related Citations
Specifications of the ACMG/AMP guidelines for ACADVL variant interpretation.
Authors: Flowers M. , Dickson A. , Miller M.J. , Spector E. , Enns G.M. , Baudet H. , Pasquali M. , Racacho L. , Sadre-Bazzaz K. , Wen T. , et al. .
Source: Molecular Genetics And Metabolism, 2023-07-26 00:00:00.0; 140(3), p. 107668.
EPub date: 2023-07-26 00:00:00.0.
PMID: 37549443
Related Citations
Minimum information and guidelines for reporting a Multiplexed Assay of Variant Effect.
Authors: Claussnitzer M. , Parikh V.N. , Wagner A.H. , Arbesfeld J.A. , Bult C.J. , Firth H.V. , Muffley L.A. , Ba A.N.N. , Riehle K. , Roth F.P. , et al. .
Source: Arxiv, 2023-06-26 00:00:00.0; , .
EPub date: 2023-06-26 00:00:00.0.
PMID: 37426450
Related Citations
Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup.
Authors: Walker L.C. , Hoya M. , Wiggins G.A.R. , Lindy A. , Vincent L.M. , Parsons M.T. , Canson D.M. , Bis-Brewer D. , Cass A. , Tchourbanov A. , et al. .
Source: American Journal Of Human Genetics, 2023-06-17 00:00:00.0; , .
EPub date: 2023-06-17 00:00:00.0.
PMID: 37352859
Related Citations
Defining critical educational components of informed consent for genetic testing: views of US-based genetic counselors and medical geneticists.
Authors: Hallquist M.L.G. , Borensztein M.J. , Coughlin C.R. , Buchanan A.H. , Andrew Faucett W. , Peay H.L. , Smith M.E. , Tricou E.P. , Uhlmann W.R. , Wain K.E. , et al. .
Source: European Journal Of Human Genetics : Ejhg, 2023-06-12 00:00:00.0; , .
EPub date: 2023-06-12 00:00:00.0.
PMID: 37308598
Related Citations
The EN-TEx resource of multi-tissue personal epigenomes & variant-impact models.
Authors: Rozowsky J. , Gao J. , Borsari B. , Yang Y.T. , Galeev T. , Gürsoy G. , Epstein C.B. , Xiong K. , Xu J. , Li T. , et al. .
Source: Cell, 2023-03-30 00:00:00.0; 186(7), p. 1493-1511.e40.
PMID: 37001506
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APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP.
Authors: Walker L.C. , de la Hoya M. , Wiggins G.A.R. , Lindy A. , Vincent L.M. , Parsons M.T. , Canson D.M. , Bis-Brewer D. , Cass A. , Tchourbanov A. , et al. .
Source: Medrxiv : The Preprint Server For Health Sciences, 2023-02-26 00:00:00.0; , .
EPub date: 2023-02-26 00:00:00.0.
PMID: 36865205
Related Citations
Re-envisioning community genetics: community empowerment in preventive genomics.
Authors: Wand H. , Martschenko D.O. , Smitherman A. , Michelson S. , Pun T. , Witte J.S. , Scott S.A. , Cho M.K. , Ashley E.A. , Preventive Genomics Program Co-Design Working Group .
Source: Journal Of Community Genetics, 2023-02-11 00:00:00.0; , .
EPub date: 2023-02-11 00:00:00.0.
PMID: 36765027
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Development and application of a computable genotype model in the GA4GH Variation Representation Specification.
Authors: Goar W. , Babb L. , Chamala S. , Cline M. , Freimuth R.R. , Hart R.K. , Kuzma K. , Lee J. , Nelson T. , Prlić A. , et al. .
Source: Pacific Symposium On Biocomputing. Pacific Symposium On Biocomputing, 2023; 28, p. 383-394.
PMID: 36540993
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Accessing clinical-grade genomic classification data through the ClinGen Data Platform.
Authors: Dalton K.P. , Rehm H.L. , Wright M.W. , Mandell M.E. , Krysiak K. , Babb L. , Riehle K. , Nelson T. , Wagner A.H. .
Source: Pacific Symposium On Biocomputing. Pacific Symposium On Biocomputing, 2023; 28, p. 531-535.
PMID: 36541006
Related Citations
Specifications of the ACMG/AMP Variant Classification Guidelines for Germline DICER1 Variant Curation.
Authors: Hatton J.N. , Frone M.N. , Cox H.C. , Crowley S.B. , Hiraki S. , Yokoyama N.N. , Abul-Husn N.S. , Amatruda J.F. , Anderson M.J. , Bofill-De Ros X. , et al. .
Source: Human Mutation, 2023; 2023, .
EPub date: 2023-03-29 00:00:00.0.
PMID: 38084291
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Optimising clinical care through CDH1-specific germline variant curation: improvement of clinical assertions and updated curation guidelines.
Authors: Luo X. , Maciaszek J.L. , Thompson B.A. , Leong H.S. , Dixon K. , Sousa S. , Anderson M. , Roberts M.E. , Lee K. , Spurdle A.B. , et al. .
Source: Journal Of Medical Genetics, 2022-12-07 00:00:00.0; , .
EPub date: 2022-12-07 00:00:00.0.
PMID: 36600593
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Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
Authors: Pejaver V. , Byrne A.B. , Feng B.J. , Pagel K.A. , Mooney S.D. , Karchin R. , O'Donnell-Luria A. , Harrison S.M. , Tavtigian S.V. , Greenblatt M.S. , et al. .
Source: American Journal Of Human Genetics, 2022-12-01 00:00:00.0; 109(12), p. 2163-2177.
EPub date: 2022-11-21 00:00:00.0.
PMID: 36413997
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CIViCdb 2022: evolution of an open-access cancer variant interpretation knowledgebase.
Authors: Krysiak K. , Danos A.M. , Saliba J. , McMichael J.F. , Coffman A.C. , Kiwala S. , Barnell E.K. , Sheta L. , Grisdale C.J. , Kujan L. , et al. .
Source: Nucleic Acids Research, 2022-11-14 00:00:00.0; , .
EPub date: 2022-11-14 00:00:00.0.
PMID: 36373660
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tmVar 3.0: an improved variant concept recognition and normalization tool.
Authors: Wei C.H. , Allot A. , Riehle K. , Milosavljevic A. , Lu Z. .
Source: Bioinformatics (oxford, England), 2022-07-29 00:00:00.0; , .
EPub date: 2022-07-29 00:00:00.0.
PMID: 35904569
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Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC).
Authors: Horak P. , Griffith M. , Danos A.M. , Pitel B.A. , Madhavan S. , Liu X. , Chow C. , Williams H. , Carmody L. , Barrow-Laing L. , et al. .
Source: Genetics In Medicine : Official Journal Of The American College Of Medical Genetics, 2022 05; 24(5), p. 986-998.
EPub date: 2022-01-29 00:00:00.0.
PMID: 35101336
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Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC).
Authors: Horak P. , Griffith M. , Danos A.M. , Pitel B.A. , Madhavan S. , Liu X. , Chow C. , Williams H. , Carmody L. , Barrow-Laing L. , et al. .
Source: Genetics In Medicine : Official Journal Of The American College Of Medical Genetics, 2022 05; 24(5), p. 986-998.
EPub date: 2022-01-29 00:00:00.0.
PMID: 35101336
Related Citations
A community approach to the cancer-variant-interpretation bottleneck.
Authors: Krysiak K. , Danos A.M. , Kiwala S. , McMichael J.F. , Coffman A.C. , Barnell E.K. , Sheta L. , Saliba J. , Grisdale C.J. , Kujan L. , et al. .
Source: Nature Cancer, 2022 May; 3(5), p. 522-525.
PMID: 35624339
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Clinical diagnosis of metabolic disorders using untargeted metabolomic profiling and disease-specific networks learned from profiling data.
Authors: Thistlethwaite L.R. , Li X. , Burrage L.C. , Riehle K. , Hacia J.G. , Braverman N. , Wangler M.F. , Miller M.J. , Elsea S.H. , Milosavljevic A. .
Source: Scientific Reports, 2022-04-21 00:00:00.0; 12(1), p. 6556.
EPub date: 2022-04-21 00:00:00.0.
PMID: 35449147
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Clinical diagnosis of metabolic disorders using untargeted metabolomic profiling and disease-specific networks learned from profiling data.
Authors: Thistlethwaite L.R. , Li X. , Burrage L.C. , Riehle K. , Hacia J.G. , Braverman N. , Wangler M.F. , Miller M.J. , Elsea S.H. , Milosavljevic A. .
Source: Scientific Reports, 2022-04-21 00:00:00.0; 12(1), p. 6556.
EPub date: 2022-04-21 00:00:00.0.
PMID: 35449147
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Evaluating the impact of in silico predictors on clinical variant classification.
Authors: Wilcox E.H. , Sarmady M. , Wulf B. , Wright M.W. , Rehm H.L. , Biesecker L.G. , Abou Tayoun A.N. .
Source: Genetics In Medicine : Official Journal Of The American College Of Medical Genetics, 2022 04; 24(4), p. 924-930.
EPub date: 2021-12-23 00:00:00.0.
PMID: 34955381
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Evaluating the impact of in silico predictors on clinical variant classification.
Authors: Wilcox E.H. , Sarmady M. , Wulf B. , Wright M.W. , Rehm H.L. , Biesecker L.G. , Abou Tayoun A.N. .
Source: Genetics In Medicine : Official Journal Of The American College Of Medical Genetics, 2022 04; 24(4), p. 924-930.
EPub date: 2021-12-23 00:00:00.0.
PMID: 34955381
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Standardized evidence-based approach for assessment of oncogenic and clinical significance of NTRK fusions.
Authors: Saliba J. , Church A.J. , Rao S. , Danos A. , Furtado L.V. , Laetsch T. , Zhang L. , Nardi V. , Lin W.H. , Ritter D.I. , et al. .
Source: Cancer Genetics, 2022-03-16 00:00:00.0; 264-265, p. 50-59.
EPub date: 2022-03-16 00:00:00.0.
PMID: 35366592
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Standardized evidence-based approach for assessment of oncogenic and clinical significance of NTRK fusions.
Authors: Saliba J. , Church A.J. , Rao S. , Danos A. , Furtado L.V. , Laetsch T. , Zhang L. , Nardi V. , Lin W.H. , Ritter D.I. , et al. .
Source: Cancer Genetics, 2022-03-16 00:00:00.0; 264-265, p. 50-59.
EPub date: 2022-03-16 00:00:00.0.
PMID: 35366592
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Evolution of germline TP53 variant classification in children with cancer.
Authors: Tallis E. , Scollon S. , Ritter D.I. , Plon S.E. .
Source: Cancer Genetics, 2022-03-03 00:00:00.0; 264-265, p. 29-32.
EPub date: 2022-03-03 00:00:00.0.
PMID: 35306447
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A guide for the diagnosis of rare and undiagnosed disease: beyond the exome.
Authors: Marwaha S. , Knowles J.W. , Ashley E.A. .
Source: Genome Medicine, 2022-02-28 00:00:00.0; 14(1), p. 23.
EPub date: 2022-02-28 00:00:00.0.
PMID: 35220969
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The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification.
Authors: Chora J.R. , Iacocca M.A. , Tichý L. , Wand H. , Kurtz C.L. , Zimmermann H. , Leon A. , Williams M. , Humphries S.E. , Hooper A.J. , et al. .
Source: Genetics In Medicine : Official Journal Of The American College Of Medical Genetics, 2022 02; 24(2), p. 293-306.
EPub date: 2021-11-30 00:00:00.0.
PMID: 34906454
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ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines.
Authors: Preston C.G. , Wright M.W. , Madhavrao R. , Harrison S.M. , Goldstein J.L. , Luo X. , Wand H. , Wulf B. , Cheung G. , Mandell M.E. , et al. .
Source: Genome Medicine, 2022-01-18 00:00:00.0; 14(1), p. 6.
EPub date: 2022-01-18 00:00:00.0.
PMID: 35039090
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Importance of Population-Based Cancer Risk Information in the Care of Patients With Rare Genetic Disorders.
Authors: Plon S.E. .
Source: Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology, 2022-01-01 00:00:00.0; 40(1), p. 5-7.
EPub date: 2021-11-18 00:00:00.0.
PMID: 34793247
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An Investigation of the Knowledge Overlap between Pharmacogenomics and Disease Genetics.
Authors: Li B. , Whirl-Carrillo M. , Wright M.W. , Babb L. , Rehm H.L. , Klein T.E. .
Source: Pacific Symposium On Biocomputing. Pacific Symposium On Biocomputing, 2022; 27, p. 385-396.
PMID: 34890165
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Defining the Critical Components of Informed Consent for Genetic Testing.
Authors: Ormond K.E. , Borensztein M.J. , Hallquist M.L.G. , Buchanan A.H. , Faucett W.A. , Peay H.L. , Smith M.E. , Tricou E.P. , Uhlmann W.R. , Wain K.E. , et al. .
Source: Journal Of Personalized Medicine, 2021-12-05 00:00:00.0; 11(12), .
EPub date: 2021-12-05 00:00:00.0.
PMID: 34945775
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Creation of an Expert Curated Variant List for Clinical Genomic Test Development and Validation: A ClinGen and GeT-RM Collaborative Project.
Authors: Wilcox E. , Harrison S.M. , Lockhart E. , Voelkerding K. , Lubin I.M. , ClinGen Expert Panels , Rehm H.L. , Kalman L.V. , Funke B. .
Source: The Journal Of Molecular Diagnostics : Jmd, 2021 11; 23(11), p. 1500-1505.
EPub date: 2021-08-09 00:00:00.0.
PMID: 34384894
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Utilizing ClinGen Gene-Disease Validity and Dosage Sensitivity Curations to Inform Variant Classification.
Authors: Thaxton C. , Good M.E. , DiStefano M.T. , Luo X. , Andersen E.F. , Thorland E. , Berg J. , Martin C.L. , Rehm H.L. , Riggs E.R. , et al. .
Source: Human Mutation, 2021-10-25 00:00:00.0; , .
EPub date: 2021-10-25 00:00:00.0.
PMID: 34694049
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Correction: CTD: An information-theoretic algorithm to interpret sets of metabolomic and transcriptomic perturbations in the context of graphical models.
Authors: Thistlethwaite L.R. , Petrosyan V. , Li X. , Miller M.J. , Elsea S.H. , Milosavljevic A. .
Source: Plos Computational Biology, 2021 Oct; 17(10), p. e1009551.
EPub date: 2021-10-25 00:00:00.0.
PMID: 34695129
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Office of Management and Budget Racial/Ethnic Categories in Mortality Research: A Framework for Including the Voices of Racialized Communities.
Authors: Hayes-Bautista D.E. , Bryant M. , Yudell M. , Hayes-Bautista T.M. , Partlow K. , Popejoy A.B. , Burchard E. , Hsu P. .
Source: American Journal Of Public Health, 2021 07; 111(S2), p. S133-S140.
PMID: 34314200
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Diverse Racial/Ethnic Group Underreporting and Underrepresentation in High-Impact Cholesterol Treatment Trials.
Authors: Sarraju A. , Valencia A. , Knowles J.W. , Maron D.J. , Rodriguez F. .
Source: Circulation, 2021-06-15 00:00:00.0; 143(24), p. 2409-2411.
EPub date: 2021-06-14 00:00:00.0.
PMID: 34125567
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Diversity in immunogenomics: the value and the challenge.
Authors: Peng K. , Safonova Y. , Shugay M. , Popejoy A.B. , Rodriguez O.L. , Breden F. , Brodin P. , Burkhardt A.M. , Bustamante C. , Cao-Lormeau V.M. , et al. .
Source: Nature Methods, 2021 06; 18(6), p. 588-591.
PMID: 34002093
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Harmonizing the Collection of Clinical Data on Genetic Testing Requisition Forms to Enhance Variant Interpretation in Hypertrophic Cardiomyopathy (HCM): A Study from the ClinGen Cardiomyopathy Variant Curation Expert Panel.
Authors: Morales A. , Ing A. , Antolik C. , Austin-Tse C. , Baudhuin L.M. , Bronicki L. , Cirino A. , Hawley M.H. , Fietz M. , Garcia J. , et al. .
Source: The Journal Of Molecular Diagnostics : Jmd, 2021 05; 23(5), p. 589-598.
EPub date: 2021-02-22 00:00:00.0.
PMID: 33631351
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Application of a framework to guide genetic testing communication across clinical indications.
Authors: Hallquist M.L.G. , Tricou E.P. , Ormond K.E. , Savatt J.M. , Coughlin C.R. , Faucett W.A. , Hercher L. , Levy H.P. , O'Daniel J.M. , Peay H.L. , et al. .
Source: Genome Medicine, 2021-04-29 00:00:00.0; 13(1), p. 71.
EPub date: 2021-04-29 00:00:00.0.
PMID: 33926532
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The need for polygenic score reporting standards in evidence-based practice: lipid genetics use case.
Authors: Wand H. , Knowles J.W. , Clarke S.L. .
Source: Current Opinion In Lipidology, 2021-04-01 00:00:00.0; 32(2), p. 89-95.
PMID: 33538426
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Variant curation expert panel recommendations for RYR1 pathogenicity classifications in malignant hyperthermia susceptibility.
Authors: Johnston J.J. , Dirksen R.T. , Girard T. , Gonsalves S.G. , Hopkins P.M. , Riazi S. , Saddic L.A. , Sambuughin N. , Saxena R. , Stowell K. , et al. .
Source: Genetics In Medicine : Official Journal Of The American College Of Medical Genetics, 2021-03-25 00:00:00.0; , .
EPub date: 2021-03-25 00:00:00.0.
PMID: 33767344
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Truth and Reconciliation of Racial and Ethnic Health Disparities: A Case Study of COVID-19.
Authors: Popejoy A.B. .
Source: The American Journal Of Bioethics : Ajob, 2021 03; 21(3), p. 79-83.
PMID: 33616495
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