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copy number analysis

The method allows analysis of copy number at the individual cell level with greater coverage uniformity and more reliable detection than other approaches.

The study also found that esophageal squamous cell carcinomas resemble head and neck cancer, while esophageal adenocarcinomas are similar to gastric cancers.

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.

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Nature News reports that genomics is being applied to trace and try to prevent additional COVID-19 waves.

Rady's Children Hospital and San Diego County are teaming up to test pediatric patients and their families for COVID-19 to gauge the spread of the virus locally, according to the San Diego Union-Tribune.

Wildlife managers aim to boost the genetic diversity of Mexican gray wolves by placing captive-born foster pups into packs with similarly aged wild pups, the Mercury News reports.

In Science this week: Genetic Probability tool identifies likely diagnoses in 45 percent of inflammatory arthritis cases, and more.