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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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The Washington Post reports that a Russian Academy of Sciences commission has led to the retraction of hundreds of scientific papers.

The Los Angeles Times' Daily Pilot reports the chief executive of Vantari Genetics has pleaded guilty in a kickback scheme.

News 4 Jax reports that a Florida bill to prevent life and long-term care insurers from using genetic information in their coverage decisions has easily passed one committee.

In Science this week: potentially pathogenic mutations found in hematopoietic stem cells from young healthy donors, and more.