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structural variation analysis

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.

Investigators uncovered 33 hotspots of large tandem duplications among breast cancer cases that affected cancer susceptibility genes and super-enhancers.

The Cancer Genome Atlas Research Network team uncovered new mutations and amplifications in their cohort of primary cervical cancers.

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A UK woman is suing three National Health Service Trusts for not telling her about her father's Huntington's disease diagnosis, the BBC reports.

LiveScience reports that a novel mutation in the LPL gene was uncovered in three siblings with very high triglyceride levels.

The president of Nankai University is embroiled in a data manipulation scandal, the South China Morning Post reports.

In PNAS this week: cytotoxic CD4 T cell signature in supercentenarians, evolutionary history of beetles, and more.