article thumbnail

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.

article thumbnail

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).

Insiders

Sign Up for our Newsletter

This site is protected by reCAPTCHA and the Google Privacy Policy and Terms of Service apply.

article thumbnail

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
article thumbnail

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.,

article thumbnail

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 Credit: Michael Holahan, Augusta University Dr. Richard A.

article thumbnail

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
article thumbnail

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