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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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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. This approach contrasts with the typical phenotype-first approach to clinical research, which starts with clinical findings.

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

pharmaphorum

However, the Resilience Project’s scientists had used genomic data originally collected for other studies and, due to limitations in the original studies’ informed consent policies and a lack of infrastructure to recontact participants, none of the 13 individuals could be contacted with follow-up questions or requests.

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

Scienmag

To discover these associations, researchers need to compare the genomes of many individuals at millions of genetic locations or markers, and therefore require cost-effective genotyping technologies. A new statistical method, developed […].

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

Worldwide Clinical Trials

As genome-wide association studies to identify genetic markers for common diseases increase, these questions will surface even more. The best course of action will depend on many variables, such as the disease or population being studied and the genotype/phenotype relationship, risk, and impact on care. Read the full article!

Genetics 130
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8 Frequently Asked Questions About Genetic Testing in Clinical Trials

Worldwide Clinical Trials

genotyping for known variants vs sequencing only vs sequencing and concurrent deletion/duplication analysis), and whether the interpretation of the genetic testing results may have changed over time. What is the difference between a Clinical Laboratory Improvement Amendments (CLIA)-approved laboratory vs a research laboratory?

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HFpEF vs. HFrEF: How To Improve Heart Failure Drug Development

XTalks

New advances in heart failure genomics are helping to address this challenge. Experts from Servier and Genuity Science recently spoke on a webinar about using genomics data to drive drug development in heart failure and identify new targets for novel therapeutics. Watch this on-demand webinar to hear from these experts.