Genomic Variants In Medical Care

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New NIH-funded resource focuses on use of genomic …

https://www.nih.gov/news-events/news-releases/new-nih-funded-resource-focuses-use-genomic-variants-medical-care

As a result, information on few genomic variants is used in clinical practice. The grants will support a consortium of research groups to develop the Clinical Genome Resource (ClinGen). The investigators will design and implement a framework for evaluating which …

New approach successfully traces genomic …

https://www.nih.gov/news-events/news-releases/new-approach-successfully-traces-genomic-variants-back-genetic-disorders

A genotype-first approach to patient care involves selecting patients with specific genomic variants and then studying their traits and symptoms; this finding …

Human Genomic Variation

https://www.genome.gov/about-genomics/educational-resources/fact-sheets/human-genomic-variation

Genomic variation reflects the differences in a person’s DNA compared to other peoples’ DNA. There are multiple types of variants in human genomes, ranging …

Medical genomics: Gather and use genetic …

https://www.nature.com/articles/508451a

A study 3 of nearly 2,000 patients with HIV showed that genetic screening for a variant called HLA …

Genetic Variants of SARS-CoV-2 May Lead to False …

https://www.fda.gov/medical-devices/letters-health-care-providers/genetic-variants-sars-cov-2-may-lead-false-negative-results-molecular-tests-detection-sars-cov-2

What is a gene variant and how do variants occur?

https://medlineplus.gov/genetics/understanding/mutationsanddisorders/genemutation/

A gene variant is a permanent change in the DNA sequence that makes up a gene. This type of genetic change used to be known as a gene mutation, but because …

The impact of genomics on the future of …

https://www.mja.com.au/journal/2014/201/1/impact-genomics-future-medicine-and-health

Genomic medicine has already shown benefit in refining diagnoses and guiding therapeutic approaches for cancer. 4 Since the late 1990s, the clinician's cancer …

Genomics: A Revolution in Health Care? - Science

https://www.nationalgeographic.com/science/article/partner-content-genomics-health-care

Genomics, the study of genes, is making it possible to predict, diagnose, and treat diseases more precisely and personally than ever. A complete human genome …

Evaluating the Benefits and Challenges of Genomics in …

https://healthitanalytics.com/news/evaluating-the-benefits-and-challenges-of-genomics-in-healthcare

Genomics could usher in a new era of personalized, targeted therapies, but there are still barriers to integrating this data with routine clinical care. Source: …

Addressing the challenges of using genetic variants in …

https://www.genome.gov/27546565/2011-news-feature-addressing-the-challenges-of-using-genetic-variants-in-medical-care

Engage medical experts to evaluate genetic variant data and come to a consensus as to which variants are actionable. Create user-friendly clinical support tools to provide …

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