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Opportunities, resources, and techniques for implementing genomics in clinical care
Advances in technologies for assessing genomic variation and an increasing understanding of the effects of genomic variants on health and disease are driving the transition of genomics from theExpand
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Genomic Information for Clinicians in the Electronic Health Record: Lessons Learned From the Clinical Genome Resource Project and the Electronic Medical Records and Genomics Network
TLDR
We present “lessons learned” from these efforts to inform future efforts leading to the development of effective and sustainable solutions for genomic medicine. Expand
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Predictive Utility of Polygenic Risk Scores for Coronary Heart Disease in Three Major Racial and Ethnic Groups.
Because polygenic risk scores (PRSs) for coronary heart disease (CHD) are derived from mainly European ancestry (EA) cohorts, their validity in African ancestry (AA) and Hispanic ethnicity (HE)Expand
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Improving reporting standards for polygenic scores in risk prediction studies
TLDR
The ClinGen Complex Disease Working Group, in a collaboration with the Polygenic Score (PGS) Catalog, have developed a novel PRS Reporting Statement (PRS-RS), updating previous standards to the current state of the field. Expand
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Genomic Medicine Year in Review: 2019.
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Erratum: De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia (The American Journal of Human
(The American Journal of Human Genetics 105, 413–424; August 1, 2019) In the originally published version of this article, Figures 3B and 3C included the allele name “sisy” but the correct term isExpand
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VarSight: prioritizing clinically reported variants with binary classification algorithms
TLDR
We tested the application of classification algorithms that ingest variant annotations along with phenotype information for predicting whether a variant will ultimately be clinically reported and returned to a patient. Expand
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Improving reporting standards for polygenic scores in risk prediction studies.
Polygenic risk scores (PRSs), which often aggregate results from genome-wide association studies, can bridge the gap between initial discovery efforts and clinical applications for the estimation ofExpand
Genomic Medicine Year in Review: 2020.
Generalizability of Polygenic Risk Scores for Breast Cancer in the Multiethnic eMERGE Study
Background: The majority of polygenic risk scores (PRS) for breast cancer have been developed and validated using cohorts of European ancestry (EA). Less is known about the generalizability of theseExpand