Genomic Medicine - Concepedia

About

Genomic medicine is a medical discipline that integrates an individual's comprehensive genetic information into their healthcare. It involves the analysis of genomic data to understand the relationship between genetic variations and health or disease states, aiming to improve diagnosis, prognosis, and personalized treatment strategies.

Top Publications

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Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology	2015
ClinVar: improving access to variant interpretations and supporting evidence	2017
ClinVar: public archive of relationships among sequence variation and human phenotype	2013
ClinVar: public archive of interpretations of clinically relevant variants	2015
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics	2016