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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. Context .

Genome 52
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64 human genomes as new reference for global genetic diversity

Scienmag

Publication in Science Credit: David Porubsky, University of Washington In 2001, the International Human Genome Sequencing Consortium announced the first draft of the human genome reference sequence. This reference, however, […].

Genome 60
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The diploid genome assemblies in marmoset shows huge variations

Scienmag

In collaboration with VGP, the research group has published a research paper in Nature on platypus and echidna genomes early this year (see report in the right column).

Genome 64
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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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CancerVar: A New Bioinformatics Tool Developed for Clinical Interpretation of Cancer Mutations

XTalks

Millions of somatic cancer variants have been identified due to precision medicine and next-generation sequencing (NGS). On Saturday, researchers at the Children’s Hospital of Philadelphia (CHOP) have announced that they developed and launched a new bioinformatics software tool called CancerVar (cancer variant interpretation).

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Oncotarget: The comprehensive genomic profiling test, GEM ExTra®

Scienmag

Proprietary bioinformatics, paired with comprehensive clinical curation results in reporting that defines clinically actionable, FDA-approved, and clinical trial drug options for the management of the patient’s cancer.

Genome 41