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.
In Science this week: metagenomic-based technique for determining protein structure, and more.
An academic laments the rise of narcissism in the sciences, the Guardian reports.
Outgoing FDA commissioner Robert Califf writes in an editorial that the agency can help boost innovation.
The Trump transition team has asked NIH Director Francis Collins to remain at his post, though it's unclear for how long that will be.