Sequenom has added gender-specific chromosomal abnormalities to its noninvasive prenatal sequencing-based test, MaterniT21 Plus. The abnormalities include female syndromes 45,X (Turner syndrome) and 47,XXX (triple X syndrome), and male syndromes 47,XXY (Klinefelter syndrome) and 47,XXY. The test also reports on trisomies 21, 18, and 13.

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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.

Jun
12
Sponsored by
Philips Genomics

This webinar will highlight a comprehensive end-to-end solution for precision care in oncology, comprising sample acquisition through to sequencing and analysis, treatment recommendations, and follow-through.

Jun
28
Sponsored by
PerkinElmer

This webinar will review a standardized, high-throughput, and fully automated library prep protocol for human metagenomic analysis.