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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.

Genome 75
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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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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 […].

Genome 57
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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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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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Can genetic data be a magic bullet for drug R&D?

pharmaphorum

One of the reasons is because researchers now have far more genetic data to work with than was ever previously possible. The cost of testing per human genome in 2006 was approximately $14 million , and in less than two decades, an average consumer-purchased genetic test costs $100.

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Genetics Tied to Thromboembolism Risk With Inflammatory Bowel Disease

The Pharma Data

from Cedars-Sinai Medical Center in Los Angeles, and colleagues used whole-exome sequencing and genome-wide genotyping to determine the proportion of 792 IBD patients genetically at risk for TED and investigate the effect of the genetic risk for TED in IBD. The researchers found that 122 of 792 IBD patients (15.4