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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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Bioinformatics Jobs: How to Succeed in This Competitive Space

XTalks

Bioinformaticians use a combination of mathematics, computer science and biology to help scientists make sense of the data gathered from research projects. The Human Genome Project could not have succeeded without the use of bioinformatics. Wondering which bioinformatics job is right for you? Bioinformatics Analyst.

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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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Personalising whole genome sequencing doubles diagnosis of rare diseases 

Drug Discovery World

A new study led by Medical Research Council-funded researchers from UCL has found that tailoring the analysis of whole genome sequencing to individual patients could double the diagnostic rates of rare diseases. . Consequently, the UK has established itself at the forefront of diagnostic whole genome sequencing.

Genome 52
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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.

Genome 57
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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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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