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New informatics software helps identify rare genetic variants

Medical Xpress

A team of researchers at Indiana University School of Medicine has developed specialized bioinformatics software designed to identify rare genetic variants in whole-genome sequencing studies. Zilin Li, Ph.D.,

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Bioinformatic exploration of perivascular space discovers 24 genomic risk loci

Medical Xpress

An international team of 79 researchers have collaborated on a study published in Nature Medicine to delve into perivascular spaces (PVS), a poorly understood artifact seen in magnetic resonance imaging of cerebral small vessel disease, a leading cause of stroke and dementia.

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How Phosphorus’ GeneCompass Preventative Genetic Test Can Help People Manage Their Health

XTalks

Phosphorus, a leading preventative genomics company, has developed the first comprehensive preventative genetic test for consumers. The test is called GeneCompass and features medical-grade technology to provide a holistic assessment of genetic health and wellness. The Phosphorus GeneCompass test has a list price of $249.

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Researchers release analysis of largest, most diverse genetic data set

Scienmag

Data demonstrates new increased diversity in genetic studies and provides new insights into population-specific diseases Researchers at the University of Maryland School of Medicine (UMSOM) and their colleagues published a new analysis today in the journal Nature from genetic sequencing data of more than 53,000 individuals, primarily from minority (..)

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Genetic profiling of Lyme disease could bring new therapeutic targets 

Drug Discovery World

The findings, from the Icahn School of Medicine at Mount Sinai in New York and published in the journal Cell Reports Medicine , may also lead to new therapeutic targets. The post Genetic profiling of Lyme disease could bring new therapeutic targets appeared first on Drug Discovery World (DDW).

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New approach to diagnosing genetic diseases using RNA sequencing increases yield

Scienmag

In the world of rare genetic diseases, exome and genome sequencing are two powerful tools used to make a diagnosis. A new study from Baylor College of Medicine finds […].

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Landmark study details sequencing of 64 full human genomes to better capture genetic diversity

Scienmag

Scott Devine, PhD 64 human genomes sequenced will serve as new reference for genetic variation and predisposition to human diseases Credit: NIH Researchers at the University of Maryland School of Medicine (UMSOM) co-authored a study, published today in the journal Science, that details the sequencing of 64 full human genomes.

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