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Investigators diagnosed additional Mendelian conditions with copy number variant analyses on pediatric patients who remained undiagnosed after exome sequencing.
Researchers uncovered rare, damaging mutations in genes involved in early brain development among 22 percent of 381 sporadic congenital hydrocephalus cases.
The researchers said their analysis of healthcare and exome data identified 285 genes overall that were significantly associated with developmental disorders.
The literature shows high specificity and sensitivity for cfDNA testing in twin pregnancies. It could also be a viable screening option for triplet pregnancies.
The deal consists of cash, Bionano common stock, and assumption of liabilities. Bionano has also paid off $1.1 million loaned to Lineagen under the CARES act.
Researchers used the system to precisely deplete mRNA transcripts in zebrafish embryos and showed that it can also be used in medaka, killifish, and mouse.
The company believes cytogeneticists will adopt its panel to get high-quality SNV and CNV data in a single assay.
Individuals with germline PTEN mutations who have autism spectrum disorder or developmental delay often also have copy number variations, a new study has found.
Thousands of parent-child exomes helped researchers identify apparently causative mobile element insertions in a handful of children with developmental disorders.
Functional analyses indicated that the de novo variant in AP2M1 found in four patients affects clathrin-mediated endocytosis and synaptic vesicle recycling.
The Wall Street Journal reports on gaps in COVID-19 testing affecting less affluent urban areas and rural locations.
According to NBC News, new SARS-CoV-2 variants are making it harder for researchers to model the course of the pandemic.
The New York Times reports that experts say President Joe Biden's goal of vaccinating 1 million people a day in the US in the next 100 days is too low a bar.
In Science this week: single-cell lineage tracing technique applied to study lung cancer metastasis, and more.