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The firms will conduct PacBio whole-genome sequencing on epilepsy patients to generate variant profiles that can help the development of diagnostic assays.
An MD Anderson-led team also used longitudinal single-cell sequencing to show how clonal architecture changed in response to AML treatment.
More than 198,000 LOF variants turned up in exome sequences from 49,960 UK Biobank participants, including variants with potential ties to human traits.
A quasi-paired cohort analysis identified shifts in the detoxifying function of gut microbes from individuals with autism spectrum disorder.
The drugmaker has a small molecule drug called venglustat under Phase II development for Parkinson's disease patients with a specific genetic mutation.
Researchers from the Broad Institute and MIT have used RNA editing and single-cell RNA sequencing to record when RNA molecules were transcribed.
Under the deal, the companies will offer NRGene software for SNP set creation with AgriPlex's genotyping platform and data analysis software.
Researchers uncovered rare, damaging mutations in genes involved in early brain development among 22 percent of 381 sporadic congenital hydrocephalus cases.
Using RNA and DNA sequencing to predict tumor site and detect gene alterations may allow patients with CUP to receive appropriate targeted treatment.
The organizations will apply PacBio's HiFi sequencing to a rare disease cohort whose genomes have not yet yielded causal variants by other methods.
The new plate-based protocol developed at the Karolinska Institute combines low-coverage WGS and SMART-Seq2 transcriptomics for single-cells.
10x will develop a third genomics platform, possibly combining Cartana's more sensitive chemistry with ReadCoor's instrument.
Researchers linked chromatin interactions, super-interactive promoters, and other regulatory features to specific cell types in the developing brain cortex.
The findings demonstrate the value of multi-cohort platform trials as an option for refractory cancer patients with particularly rare genomic tumor alterations.
Investors in the round included International Holdings Company (IHC), based in Abu Dhabi, United Arab Emirates, and RPMI Railpen, a UK pension fund.
The initiative will build up pathogen sequencing capacity through investment from the Gates Foundation, Microsoft, Illumina, and Oxford Nanopore.
The researchers also developed a web-based tool based on the data they gathered that could help predict COVID-19 severity in patients.
Oxford Nanopore said it is rolling out the LamPore test globally, initially in the UK, Germany, Switzerland, and the United Arab Emirates.
An Invitae-led retrospective study found almost a third of cancer patients who underwent germline genetic testing after tumor sequencing had pathogenic variants.
The single-molecule sequencing firm is skipping a beta testing program for its new sequencer, which should be available by the end of the year.
The Washington Post reports that US states and territories are seeking more funding for the distribution of SARS-CoV-2 vaccines.
The strain now accounts for about 80 percent of cases in Wales and Scotland, and about half of cases in England, the Guardian reports.
A new study suggests that using CRISPR to edit human embryonic DNA can lead to the loss of whole chromosomes, as the Associated Press reports.
In Science this week: ancient dog genomes highlight long ties with humans, genomic analysis of 40,000-year-old early East Asian individual, and more.