Erin M. Ramos
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View article: Advancing the science of genomic learning healthcare systems
Advancing the science of genomic learning healthcare systems Open
Introduction Identifying key characteristics of exemplar genomic learning healthcare systems (gLHS) and knowledge gaps that can be explored by collaboration among them is likely to accelerate the sharing of best practices and generation of…
View article: Design and implementation of an action plan for justice, equity, diversity, and inclusion within the Clinical Genome Resource
Design and implementation of an action plan for justice, equity, diversity, and inclusion within the Clinical Genome Resource Open
View article: Integrating Pharmacogenomics into the Broader Construct of Genomic Medicine: Efforts by the ClinGen Pharmacogenomics Working Group (PGxWG)
Integrating Pharmacogenomics into the Broader Construct of Genomic Medicine: Efforts by the ClinGen Pharmacogenomics Working Group (PGxWG) Open
Pharmacogenomics (PGx) is focused on the relationship between an individual's genetic makeup and their response to medications, with the overarching aim of guiding prescribing decisions to improve drug efficacy and reduce adverse events. T…
View article: The Clinical Genome Resource (ClinGen): Advancing genomic knowledge through global curation
The Clinical Genome Resource (ClinGen): Advancing genomic knowledge through global curation Open
View article: Patterns of pharmacogenetic variation in nine biogeographic groups
Patterns of pharmacogenetic variation in nine biogeographic groups Open
Frequencies of pharmacogenetic (PGx) variants are known to differ substantially across populations but much of the available PGx literature focuses on one or a few population groups, often defined in nonstandardized ways, or on a specific …
View article: P570: Generating a framework for curating mechanism of disease in monogenic conditions: A consensus effort of the Gene Curation Coalition*
P570: Generating a framework for curating mechanism of disease in monogenic conditions: A consensus effort of the Gene Curation Coalition* Open
The Gene Curation Coalition (GenCC) was formed in 2017 to bring together international resources reporting the validity of gene-disease relationships. It comprises organizations that currently provide online gene-level resources (ClinGen, …
View article: Genomic medicine year in review: 2023
Genomic medicine year in review: 2023 Open
View article: Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships—allelic requirement, inheritance modes, and disease mechanisms
Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships—allelic requirement, inheritance modes, and disease mechanisms Open
View article: Towards robust clinical genome interpretation: developing a consistent terminology to characterize disease-gene relationships - allelic requirement, inheritance modes and disease mechanisms
Towards robust clinical genome interpretation: developing a consistent terminology to characterize disease-gene relationships - allelic requirement, inheritance modes and disease mechanisms Open
PURPOSE The terminology used for gene-disease curation and variant annotation to describe inheritance, allelic requirement, and both sequence and functional consequences of a variant is currently not standardized. There is considerable dis…
View article: The PhenX Toolkit: Measurement Protocols for Assessment of Social Determinants of Health
The PhenX Toolkit: Measurement Protocols for Assessment of Social Determinants of Health Open
Promoting the adoption of well-established social determinants of health protocols can enable consistent data collection and facilitate comparing and combining studies, with the potential to increase their scientific impact.
View article: P451: The Gene Curation Coalition works to resolve discrepancies in gene-disease validity assertions
P451: The Gene Curation Coalition works to resolve discrepancies in gene-disease validity assertions Open
View article: Genomic Medicine Year in Review: 2022
Genomic Medicine Year in Review: 2022 Open
View article: Identifying Datasets for Cross-Study Analysis in dbGaP using PhenX
Identifying Datasets for Cross-Study Analysis in dbGaP using PhenX Open
View article: The Gene Curation Coalition: A global effort to harmonize gene–disease evidence resources
The Gene Curation Coalition: A global effort to harmonize gene–disease evidence resources Open
Terminology standardization, sharing of gene-disease validity classifications, and resolution of curation conflicts will facilitate collaborations across international curation efforts and in turn, improve consistency in genetic testing an…
View article: A research agenda to support the development and implementation of genomics-based clinical informatics tools and resources
A research agenda to support the development and implementation of genomics-based clinical informatics tools and resources Open
Objective The Genomic Medicine Working Group of the National Advisory Council for Human Genome Research virtually hosted its 13th genomic medicine meeting titled “Developing a Clinical Genomic Informatics Research Agenda”. The meeting’s go…
View article: ClinGen’s Pediatric Actionability Working Group: Clinical actionability of secondary findings from genome-scale sequencing in children and adolescents
ClinGen’s Pediatric Actionability Working Group: Clinical actionability of secondary findings from genome-scale sequencing in children and adolescents Open
View article: The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources
The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources Open
PURPOSE Several groups and resources provide information that pertains to the validity of gene-disease relationships used in genomic medicine and research; however, universal standards and terminologies to define the evidence base for the …
View article: Genomic medicine year in review: 2021
Genomic medicine year in review: 2021 Open
View article: Genomic medicine implementation protocols in the PhenX Toolkit: tools for standardized data collection
Genomic medicine implementation protocols in the PhenX Toolkit: tools for standardized data collection Open
View article: Using the PhenX Toolkit to Select Standard Measurement Protocols for Your Research Study
Using the PhenX Toolkit to Select Standard Measurement Protocols for Your Research Study Open
The goals of PhenX (consensus measures for Phen otypes and e X posures) are to promote the use of standard measurement protocols and to help investigators identify opportunities for collaborative research and cross‐study analysis, thus inc…
View article: Improving reporting standards for polygenic scores in risk prediction studies
Improving reporting standards for polygenic scores in risk prediction studies Open
View article: ClinGen — The Clinical Genome Resource
ClinGen — The Clinical Genome Resource Open
On autopsy, a patient is found to have hypertrophic cardiomyopathy. The patient’s family pursues genetic testing that shows a “likely pathogenic” variant for the condition on the basis of a study in an original research publication. Given …
View article: Data compatibility in the addiction sciences: An examination of measure commonality
Data compatibility in the addiction sciences: An examination of measure commonality Open
The need for comprehensive analysis to compare and combine data across multiple studies in order to validate and extend results is widely recognized. This paper aims to assess the extent of data compatibility in the substance abuse and add…
View article: Phenotype harmonization and cross-study collaboration in GWAS consortia: the GENEVA experience
Phenotype harmonization and cross-study collaboration in GWAS consortia: the GENEVA experience Open
Genome-wide association study (GWAS) consortia and collaborations formed to detect genetic loci for common phenotypes or investigate gene-environment (G*E) interactions are increasingly common. While these consortia effectively increase sa…
View article: Characterizing Genetic Variants for Clinical Action
Characterizing Genetic Variants for Clinical Action Open
Genome-wide association studies, DNA sequencing studies, and other genomic studies are finding an increasing number of genetic variants associated with clinical phenotypes that may be useful in developing diagnostic, preventive, and treatm…
View article: Clinical Genetics Lacks Standard Definitions and Protocols for the Collection and Use of Diversity Measures
Clinical Genetics Lacks Standard Definitions and Protocols for the Collection and Use of Diversity Measures Open
Genetics researchers and clinical professionals rely on diversity measures such as race, ethnicity, and ancestry (REA) to stratify study participants and patients for a variety of applications in research and precision medicine. However, t…
View article: Improving reporting standards for polygenic scores in risk prediction studies
Improving reporting standards for polygenic scores in risk prediction studies Open
Polygenic risk scores (PRS), often aggregating the results from genome-wide association studies, can bridge the gap between the initial variant discovery efforts and disease risk estimation for clinical applications. However, there is rema…
View article: Clinical genetics lacks standard definitions and protocols for the collection and use of diversity measures
Clinical genetics lacks standard definitions and protocols for the collection and use of diversity measures Open
Genetics researchers and clinical professionals rely on diversity measures such as race, ethnicity, and ancestry (REA) to stratify study participants and patients for a variety of applications in research and precision medicine. However, t…
View article: Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource
Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource Open
Supplemental Data Supplemental Data include 65 figures and can be found with this article online at http://dx.doi.org/10.1016/j.ajhg.2017.04.015. Supplemental Data Document S1. Figures S1–S65 Download Document S2. Article plus Supplemental…
View article: A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation
A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation Open
Genome and exome sequencing can identify variants unrelated to the primary goal of sequencing. Detecting pathogenic variants associated with an increased risk of a medical disorder enables clinical interventions to improve future health ou…