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Downloads and Upgrades: Ingenuity Variant Analysis an d iReport, InSilico DB Chimera 1.9, and more


Qiagen Redwood City, formerly Ingenuity, said this week that it has integrated the Ingenuity Variant Analysis and Ingenuity iReport software with the InSilico DB data management platform. This provides InSilico's users with access to the Ingenuity applications and lets Qiagen's customers explore their private datasets in the context of the sequencing data provided by InSilico DB.

Chimera 1.9, a molecular modeling system developed by researchers at the University of California, San Francisco, is available here.

New features in this release include multiple sequence alignment using Clustal Omegaor MUSCLE web services; the ability to build double-helical nucleic acids; more efficient save/restore of coordinates in sessions; a Dynameomics amino acid rotamer library; and more.

The bioinformatics group at the University of California, Santa Cruz, has released a new genes track for the GRCh38/hg38 human genome browser. The new release has 104,178 transcripts, compared with 82,960 in the previous version on hg19. The total number of canonical genes also increased from 31,848 to 48,424.

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The Scan

Myotonic Dystrophy Repeat Detected in Family Genome Sequencing Analysis

While sequencing individuals from a multi-generation family, researchers identified a myotonic dystrophy type 2-related short tandem repeat in the European Journal of Human Genetics.

TB Resistance Insights Gleaned From Genome Sequence, Antimicrobial Response Assays

Researchers in PLOS Biology explore M. tuberculosis resistance with a combination of sequencing and assays looking at the minimum inhibitory concentrations of 13 drugs.

Mendelian Disease Genes Prioritized Using Tissue-Specific Expression Clues

Mendelian gene candidates could be flagged for further functional analyses based on tissue-specific transcriptome and proteome profiles, a new Journal of Human Genetics paper says.

Single-Cell Sequencing Points to Embryo Mosaicism

Mosaicism may affect preimplantation genetic tests for aneuploidy, a single-cell sequencing-based analysis of almost three dozen embryos in PLOS Genetics finds.