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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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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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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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Genetic profiling of Lyme disease could bring new therapeutic targets 

Drug Discovery World

Researchers have identified 35 genes associated with long-term Lyme disease that could potentially be used as biomarkers to diagnose patients with the condition. . 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.

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Cancer Research UK partnership aims to back 10 new startups

pharmaphorum

Cancer Research UK has expanded an alliance with investment group Deep Science Ventures with a commitment to support the formation up to 10 new oncology startups. The post Cancer Research UK partnership aims to back 10 new startups appeared first on.

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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 recent addition to the toolkit, RNA sequencing, has been demonstrated to help researchers narrow down disease candidate variants identified first on exome and genome sequencing.