copy number analysis | GenomeWeb

copy number analysis

The circulating tumor cell-based classifier had an overall accuracy of 89 percent for small-cell lung cancer patients, the researchers reported.

Data for hundreds of breast tumors suggested specific signatures were more closely linked to tumor-infiltrating lymphocyte activity than was mutational load. 

The findings, published last week, have prompted Belgian medical genetics centers to routinely report maternal incidental findings from NIPT.

In Nucleic Acids Research this week: tool to discover copy number variants, single-nucleus RNA sequencing study of myoblasts, and more.

Three papers published this week offer fine-grained detail about the Exome Aggregation Consortium's analysis and methods, showing the data's value in a specific use case.

The method quantifies structural variations in an allele-specific manner, providing an integrative way to study complex SVs and copy number alterations. 

Individuals with multiple primary colorectal cancers appear prone to germline immune-related gene mutations that may lead to mutationally heterogeneous tumors.

The researchers will use Sapientia to analyze samples from 1,000 fetuses as part of efforts to develop an exome-based assay for non-invasive prenatal testing.

The pipeline, called IMPACT, pinpointed genetic variants in lung cancer and melanoma patients and matched them to targeted drugs. 

In Genome Research this week: sequencing approach to detect large CNVs, method to find CRISPR-Cas9 nuclease targets, and more.

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In Science this week: genetic analysis of pollutant-tolerant fish, and more.

Researchers have found a rare carbapenem resistance gene on a US pig farm, NBC News reports.

New York officials are considering the use of a familial DNA search to get a lead on a suspect in the strangulation death of a runner.

NIH Director Francis Collins has selected a retired Army major general and cardiologist for the CEO spot at the agency's embattled Clinical Center.