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copy number analysis

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.

Researchers identified prognostically relevant glioma subtypes by incorporating genetic, epigenetic, and protein data for 1,122 diffuse glioma tumors.

The results showed that syndromic forms of autism are more likely when children have alterations of genes in the mGluR pathway.

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Novavax has begun a phase III trial of its SARS-CoV-2 vaccine, according to the New York Times.

The governor of New York says the state will conduct its own review of any SARS-CoV-2 vaccine, NPR reports.

Vox reports that the Trump Administration may limit student visas for individuals from some countries to two years.

This week in Science: Neanderthal Y chromosomes replaced by Homo sapiens Y chromosomes, and more.