NEW YORK (GenomeWeb) – Premaitha Health has reported that its cell-free DNA-based screen for fetal aneuploidies performed with perfect sensitivity and specificity.

Trisomies 13, 18, and 21 have been increasing in incidence, according to the US Centers for Disease Control and Prevention. But, common screening approaches based on ultrasound findings and other markers have false-positive rates that lead many women to seek an invasive diagnostic procedure like an amniocentesis or chorionic villus sampling when it may not be necessary.

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In an against-all-odds twist, a researcher studying exceeding rare FOXG1 mutations discovers her daughter has the syndrome.

An effort by Genomics Medicine Ireland is creating a database of diseases based on the genomics of people in Ireland. It now is looking into the possibility of including Scotland in its work.

In recent weeks, the direct-to-consumer genetics firm has rolled out a health hub where customers can share information concerning 18 common health conditions.

In PLOS this week, new genes associated with prostate cancer risk, genetic patterns in M. bovis, and more.

Apr
26
Sponsored by
Thermo Fisher Scientific

In this webinar, the second in the “New Frontiers in Liquid Biopsy Research” series, Luca Quagliata, Senior Consultant in the Molecular Pathology Unit at University Hospital Basel, will share two specific unmet needs within his lab’s liquid biopsy research that led to the eventual evaluation, adoption, and implementation of the latest liquid biopsy Oncomine NGS solutions from Thermo Fisher.

May
01
Sponsored by
Horizon Discovery

This webinar will provide an in-depth case study demonstrating how reference standards can be used to develop and validate circulating tumor DNA (ctDNA)-based assays.

May
08
Sponsored by
Dovetail Genomics

This webinar will discuss a proximity ligation-based method for studying structural variation in formalin-fixed paraffin-embedded (FFPE) tissue.

May
15
Sponsored by
Tecan

This webinar will discuss how an algorithm-driven synthetic biology system can enable engineering of biological systems for a range of applications.