exome sequencing | GenomeWeb

exome sequencing

In Genome Biology this week: comparative genomics study of Aspergillus, genetic variation in indigenous African cattle, and more.

The company, a spinoff from genomics service provider Macrogen, plans to offer patients an exome test that screens for more than 4,000 rare diseases.

Two studies described de novo gene mutations involved in autism spectrum disorder and other neurodevelopmental conditions, while weeding out unrelated changes.

Heterozygous deletions at the chromosome 22q11.2 locus contribute to kidney problems in individuals with DiGeorge syndrome or congenital urogenital conditions.

A British team discovered 14 novel genes associated with developmental disorders in addition to several new disorders linked to known genes.

The researchers used both targeted and exome sequencing to genetically diagnose patients.

The results suggest that targeted treatments used in rare epilepsies might also work in a portion of patients with common forms of the disease.

While gain-of-function mutations lead to congenital arhinia, inactivating mutations lead to an adult-onset muscular dystrophy, the researchers reported.

A subset of mutation-associated neoantigens appeared to be lost from lung or head and neck tumors that became resistant to anti-PD1 or anti-PD1 and anti-CLTA4 therapy.

The company can now offer its Clinical Exome and Pediatric Neurology Region of Interest diagnostic tests in New York.

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In Science this week: genetic target for urothelial bladder cancer treatment, and more.

At the Conversation, the University of Oxford's Michael Macklay writes that learning genetic risk of disease is a personal decision.

Two dozen scientific organizations have endorsed the March for Science, according to ScienceInsider.

Researchers in Japan describe a chimpanzee with a chromosomal abnormality similar to human Down syndrome, Mashable reports.