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exome sequencing

The new grant will be used to conduct whole-exome sequencing on 1,000 children participating in an autism spectrum disorder study for the purposes of biomarker development.

Predictive Laboratories will use Thermo Fisher reproductive health products to research the genetic basis of infertility, aiming to develop better diagnostic tools.

A new analysis indicates that colorectal cancer metastases arise from a small number of cells before the primary tumor is large enough to be detected clinically.

A small but significant proportion of autism spectrum disorder cases — particularly those occurring in females — appeared to involve biallelic loss-of function or missense mutations.

A genome-wide association study that included two European cohorts pointed to a potential role for the SIGLEC15 gene in recurrent vulvovaginal candidiasis susceptibility.

Using exome data from Alzheimer's disease cases and controls with or without the APOE4 risk allele, investigators identified potential risk-stratifying variants.

This Week in Science

In Science this week: metabolic gene duplication enables freshwater adaptation, genetic analysis of wheat, and more.

Using CRISPR mouse and iPS cell models, the researchers showed that a rare maternally inherited variant is a genetic modifier of two paternally inherited variants.

Cancer Moonshot-funded teams are profiling pre-cancers in an effort to establish targeted treatment, detection, and prevention methods that can be applied before cancers form.

The team sequenced more than 2,200 Saudi families to find the likely source of genetic disease in about 43 percent of cases.

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The chief executive of the National Health Service in England is to call for tumor-agnostic drugs to be "fast-tracked," according to the Times.

Researchers in Australia are sequencing the Wollemi pine tree to try to protect it from extinction, Australia's ABC News reports.

Computerworld ranks Illumina as one of the top midsize organizations to work at in IT.

In Genome Research this week: links between biological aging and mutations affecting epigenetic regulators; long-read sequencing-based strategy to map chromatin accessibility; and more.