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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.

Genome 75
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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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Can genetic data be a magic bullet for drug R&D?

pharmaphorum

Ben Hargreaves finds that the vast amount of genetic data that exists today could help provide a faster, more targeted way of developing new drug candidates. The logical extension to this kind of approach is treating individual patients, with their individual genetic makeup.

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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.

Genome 57