structural variation analysis

In Genome Research this week: computational method for detecting repeat expansions, approach to find mosaic structural changes, and more.

Researchers found that dogs have structural variants in two genes that have previously been linked to Williams-Beuren syndrome, a condition marked by hypersociability.

The firms will develop tests in the hematology oncology space where detecting large structural variations of the genome is crucial for accurate diagnoses. 

The Brown University spinout plans to market its instrument, Nabsys HD-Mapping, for genome mapping, de novo assembly, and structural variant detection. 

The Mayo Medical Laboratories laboratory is offering mate-pair sequencing for cancer and inherited disease indications, with plans to expand the service.

A genomic analysis of melanoma subtypes affecting the skin, mucosal tissues, and hands or feet found a range of mutations and structural changes.

Researchers reported that structural variants also tend to have larger effect sizes than single-nucleotide variants or insertions and deletions.

One team examined single-nucleotide variation, indels, and copy-number variations in ASD, while the other focused on large structural variations.

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.

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While gene therapies may have high price tags, they could be cheaper than the cost of managing disease, according to MIT's Technology Review.

Researchers are looking for markers that indicate which cancer patients may respond to immunotherapies, the Associated Press writes.

In Nature this week: paternal age associated with de novo mutations in children, and more.

Nature News writes that researchers are still wrangling over the role of the p-value.