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The firm believes its method, which involves multiplex ligation probes and sample barcoding, could significantly reduce assay costs and improve accuracy.
Copy Number Variants May Influence Clinical Presentation Among Individuals with PTEN Mutations
Individuals with germline PTEN mutations who have autism spectrum disorder or developmental delay often also have copy number variations, a new study has found.
Single-Cell Sequencing Study Suggests Antioxidant Pathway Role in Female Fertility Declines
Transcriptome profiles in ovarian cells from young and old non-human primates unearthed expression changes that coincided with flagging fertility in humans.
In Brief This Week: CareDx, Twist Bioscience, Kytopen, and More
News items for the week of Jan. 27, 2020.
A Little Bit Neanderthal
A new analysis finds that Neanderthal ancestry can be found across human populations, including among Africans.
Zimbabwe Imports Modified Corn
Zimbabwe, facing drought and possible famine, lifts its ban and imports genetically modified corn, according to Bloomberg.
Keeping Animals' Diversity
Researchers in South Africa are concerned that breeding experiments will lead to a loss of genetic diversity among key species there, according to the Guardian.
Science Studies Examine Genomes of African Population with High Schizophrenia Rate, Engineer Bee Microbiome, More
In Science this week: genetic mutation linked to schizophrenia among South African Xhosas, engineering the bee microbiome to address parasite and virus, and more.
NeuMoDx T. Vaginalis, M. Genitalium Assay CE Marked
The molecular assay detects and differentiates Trichomonas vaginalis and/or Mycoplasma genitalium in clinical urine samples.
NIH Grants $4.8M for Mulit-Omic Study of ApoE4 in Alzheimer's Disease
Gladstone Institutes researchers will use proteomic, genomic, and gene-altering approaches to investigate apoe4 toxicity as part of a five-year project.
The company anticipates launching an in vitro diagnostic version of the 10-gene ThyroidPrint assay in South America and Europe after receiving regulatory clearance by Q2 2021.
The FDA has been prodding labs performing pharmacogenetic testing, and software firms providing reports from such testing, to undergo regulatory review.
RedShiftBio: Julien Bradley
RedShift BioAnalytics (RedShiftBio) , a provider of analytical solutions for protein characterization in biotherapeutic development, has appointed Julien Bradley as CEO. Bradley most recently served as vice president of marketing, corporate development and strategy at Quanterix, where he also previously served as VP of marketing and sales operations. He has also held senior roles at Phosphorus, OvaScience, and Thermo Fisher Scientific.
China remains a key strategic market for Roche, and it said that it has multiple assays for 2019-nCoV coronavirus for research-use only.
MolDx Finalizes Expanded Coverage for Liquid Biopsies
Medicare Administrative Contractor Palmetto released its final local coverage decision last year, and WPSIC has now aligned its coverage.
The system showed good performance for cervical samples as well as orophyrengeal samples, and required no extraction step.
A new analysis has provided evidence that adjuvant lung cancer immunotherapy benefits those with lingering ctDNA, but not necessary those without.
The company, which recently signed a licensing agreement with Horizon Discovery, just raised $45 million in a Series B financing round.
Illumina Puts Spotlight on Clinical NGS Opportunities, Cites Contributions to Coronavirus Response
Premium
Clinical sequencing consumables revenues grew 20 percent year over year and accounted for just over 40 percent of total consumables shipments in 2019.
The rise of new protein analysis techniques have some questioning whether mass spec will in coming years retain its dominant position within proteomics.
Neanderthal Genetic Ancestry Found in Present-Day African Populations
Researchers used a statistical approach to identify Neanderthal ancestry in thousands of individuals, refining estimates on the proportion of ancestry in various human populations.
Chinese Dx Firm AnPac Bio-Medical Expects to Raise $16M in US IPO
The Chinese company has also granted the underwriters of the offering an option to purchase an additional 200,004 ADS to cover overallotments.
Schizophrenia Exome Sequencing Study in South African Population Reveals Rare Mutations, Pathways
An analysis of cases and controls from South Africa's Xhosa population pointed to private, damaging mutations in genes expressed in the brain.