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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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CancerVar: A New Bioinformatics Tool Developed for Clinical Interpretation of Cancer Mutations

XTalks

CancerVar will help researchers standardize and automate clinical interpretations for 13 million somatic mutations from 1,911 cancer census genes. Millions of somatic cancer variants have been identified due to precision medicine and next-generation sequencing (NGS). What is CancerVar? Why Was CancerVar Developed?

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McIndoe leading $6.2 million innovative research initiative

Scienmag

McIndoe, bioinformatics expert and associate director of the Center for Biotechnology and Genomic Medicine at the Medical College of Georgia, is leading a dynamic, new $6.2 million federally funded initiative to support highly innovative research ideas in three areas with tremendous impact on health.

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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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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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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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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