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NextGene 2.4.2

SoftGenetics has released NextGene 2.4.2. The release features a new batch CNV tool for screening copy number variants, a unique molecular identifier tool for removing duplicate reads from most commercially available chemistries, and templates for analyzing data from the NEBNext Direct Cancer HotSpot panel and the Direct BRCA panel. The software also offers in-read phasing capabilities, tools for sharing reference tracks with various genome builds, and integrated preloaded references with track manager. The software is integrated with SoftGenetics' Geneticist Assistant NGS Workbench.

The Scan

Octopus Brain Complexity Linked to MicroRNA Expansions

Investigators saw microRNA gene expansions coinciding with complex brains when they analyzed certain cephalopod transcriptomes, as they report in Science Advances.

Study Tracks Outcomes in Children Born to Zika Virus-Infected Mothers

By following pregnancy outcomes for women with RT-PCR-confirmed Zika virus infections, researchers saw in Lancet Regional Health congenital abnormalities in roughly one-third of live-born children.

Team Presents Benchmark Study of RNA Classification Tools

With more than 135 transcriptomic datasets, researchers tested two dozen coding and non-coding RNA classification tools, establishing a set of potentially misclassified transcripts, as they report in Nucleic Acids Research.

Breast Cancer Risk Related to Pathogenic BRCA1 Mutation May Be Modified by Repeats

Several variable number tandem repeats appear to impact breast cancer risk and age at diagnosis in almost 350 individuals carrying a risky Ashkenazi Jewish BRCA1 founder mutation.