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CNVs

In Genome Research this week: selection on cognition genes in primates, algorithm to find gene fusions, and more.

Two new studies of people with autism spectrum disorder indicate that mosaic mutations and copy number variants contribute to a person's risk for the condition.

Investigators diagnosed additional Mendelian conditions with copy number variant analyses on pediatric patients who remained undiagnosed after exome sequencing.

Single-cell RNA sequencing on adrenal gland samples with or without neuroblastoma helped track down key malignant subtypes and tumor features, providing prognostic clues.

Genomic and epigenomic data suggest it may be possible to target an FGFR fusion found in open chromatin in a subset of adenosquamous carcinoma of the pancreas tumors.

Launched in 2016 by researchers in Utah, the firm recently published a genome-wide signature that predicts survival of glioblastoma patients. 

Researchers mapped and characterized rare structural variants in whole-genome sequence data for almost 18,000 individuals for future disease and trait studies.

In PLOS this week: phenome-wide association study of psychiatric disorder polygenic risk scores, CNV patterns in rhesus macaques, and more.

Integrated analyses uncovered recurrent changes in renal medullary carcinoma, including potential treatment vulnerabilities stemming from DNA replication stress.

An analysis of lung adenocarcinoma brain metastases uncovered more frequent amplifications or deletions in a handful of genomic regions, pointing to potential drivers.

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Politico reports that the NYPD DNA database has grown since it announced it would be removing profiles from it.

Forbes reports that a structural biology lab at Oxford University studying the coronavirus was hacked.

Science reports that a Dutch research funding agency is combating a ransomware attack.

In Science this week: set of 64 haplotype assemblies from 32 individuals, and more.