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New approach successfully traces genomic variants back to genetic disorders

Medical Xpress

National Institutes of Health researchers have published an assessment of 13 studies that took a genotype-first approach to patient care. The study was published in the American Journal of Human Genetics. This approach contrasts with the typical phenotype-first approach to clinical research, which starts with clinical findings.

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To Share or Not to Share Failed Genetic Screening Results with Patients

Worldwide Clinical Trials

When using genetic screening to identify clinical trial volunteers, a sponsor’s obligations for further testing and disclosure of results to patients and families are unclear, especially when the results have no impact on medical management. Guidance in this area is much needed. Read the full article!

Genetics 130
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SSRgenotyper: A new tool to digitally genotype simple sequence repeats

Scienmag

SSRgenotyper: A simple sequence repeat genotyping application for whole-genome resequencing and reduced representational sequencing projects.

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Twist Bioscience Collaborates with Regeneron for Production of Genotyping by Sequencing Panel to Enable Diverse Genome-wide Screening

BioTech 365

Twist Bioscience Collaborates with Regeneron for Production of Genotyping by Sequencing Panel to Enable Diverse Genome-wide Screening Twist Bioscience Collaborates with Regeneron for Production of Genotyping by Sequencing Panel to Enable Diverse Genome-wide Screening — Population Genetics Sequencing Panel Incorporates … Continue reading (..)

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Why early participant engagement is now a top priority in genetic disease research

pharmaphorum

In 2016, scientists behind a study called the Resilience Project analysed genetic data from 589,000+ people and found 13 adults who carried genetic variants that should have resulted in serious – even deadly – childhood disease, but who were apparently healthy. Giving participants something in return. Navigating the right not to know.

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8 Frequently Asked Questions About Genetic Testing in Clinical Trials

Worldwide Clinical Trials

Genetic testing provides patients with a diagnosis for their illness, helps patients and family members to understand risks of developing new diseases, and can be used to support clinical trial advancement. What are the benefits and limitations to using genetic testing? It is important to consider the type of testing performed (e.g.,

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Inferring human genomes at a fraction of the cost promises to boost biomedical research

Scienmag

Credit: Delaneau Group Thousands of genetic markers have already been robustly associated with complex human traits, such as Alzheimer’s disease, cancer, obesity, or height.