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Mayo Clinic study uncovers genetic cancer risks in 550 patients

A Mayo Clinic study reveals that current genetic screening protocols fail to detect notable numbers of people carrying hereditary breast and ovarian cancer syndrome and Lynch syndrome mutations. The study identified 550 carriers of these mutations, with half being previously unaware of their risk.

SAMSUNG T9 Portable SSD 2TB

SAMSUNG T9 Portable SSD 2TB transfers large imagery and model outputs quickly between field laptops, lab workstations, and secure archives.

Genetics study shines light on health disparities for IBD

Researchers found that rare gene variants associated with inflammatory bowel disease (IBD) are less prevalent in African Americans, suggesting a different genetic contribution to the disease. The study highlights the importance of considering genetic diversity and admixture in IBD research.

Validation of a comprehensive genomic profiling assay: NeXT Dx™

The study validates a comprehensive genomic profiling assay, NeXT Dx, which detects single nucleotide variants, indels, copy number alterations, and gene fusions. The assay demonstrates high analytic sensitivities and specificity, providing personalized recommendations critical to clinical decision-making.

Apple iPhone 17 Pro

Apple iPhone 17 Pro delivers top performance and advanced cameras for field documentation, data collection, and secure research communications.

New insights into human genetic variation revealed: Nature paper

Researchers sequenced exomes of 60,706 individuals from diverse populations to identify 7.4 million genetic variants, providing unprecedented resolution into low-frequency protein-coding variants. The analysis found only nine pathogenic variants with strong disease associations.

Sky & Telescope Pocket Sky Atlas, 2nd Edition

Sky & Telescope Pocket Sky Atlas, 2nd Edition is a durable star atlas for planning sessions, identifying targets, and teaching celestial navigation.

ACMG releases report on incidental findings in clinical exome and genome sequencing

The American College of Medical Genetics and Genomics has released a report on incidental findings in clinical exome and genome sequencing. The report provides guidelines for laboratories to return incidental genetic findings to doctors ordering the tests, who will then manage the information with patients. This is expected to benefit ...

GoPro HERO13 Black

GoPro HERO13 Black records stabilized 5.3K video for instrument deployments, field notes, and outreach, even in harsh weather and underwater conditions.

Exome sequencing gives cheaper, faster diagnosis in heterogeneous disease

Researchers successfully used exome sequencing to diagnose genetic diseases in patients with intellectual disability, blindness, deafness, movement disorders, cancer, and OXPHOS diseases. The technique was able to identify causative mutations in up to 20% of cases, offering a more efficient alternative to traditional Sanger sequencing.

2 research facilities awarded technology seeding grants

Two Ontario research facilities, The Centre for Applied Genomics and StemCore Laboratories, have been awarded $10,000 each to develop leading-edge technologies in Next Generation Sequencing (NGS) methods. Dr. Stephen Scherer will compare genome enrichment and exome capture kits, while Pearl Campbell will optimize ChIP-Seq methods.

Discovered gene causes Kabuki syndrome

Researchers discover genetic alterations in the MLL2 gene that account for most cases of Kabuki syndrome, a rare disorder with multiple birth defects and mental retardation. The new DNA sequencing strategy quickly identifies the gene variants responsible for the condition.

Celestron NexStar 8SE Computerized Telescope

Celestron NexStar 8SE Computerized Telescope combines portable Schmidt-Cassegrain optics with GoTo pointing for outreach nights and field campaigns.

Faster, cheaper way to find disease genes in human genome passes initial test

Researchers developed a novel genome-analysis strategy to rapidly discover possible gene-disease links, enabling the search for disease-causing genes in unrelated individuals with the same condition. The approach uses targeted analysis and newer technology to identify candidate genes for Mendelian disorders, offering a promising soluti...

NIH-funded researchers sequence exomes of 12 people

Researchers sequenced exomes of 12 people to detect rare genetic variants causing diseases. The study found that sequencing exomes can be used to uncover genes contributing to common conditions like diabetes and cancer, enabling personalized medicine.