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New Products: Illumina's Phasing Analysis Service; UCSC's Variant Annotation Integrator

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Illumina has added Phasing Analysis Service to its FastTrack Services laboratory through the Illumina Genome Network. The phasing service makes use of synthetic long read technology developed by Moleculo, which Illumina acquired in January. The new service is available for add-on to the IGN's Whole-Genome Analysis Service, with results delivered within 12 weeks.


The University of California, Santa Cruz Genome Bioinformatics Group has launched the Variant Annotation Integrator, a software tool that will determine the predicted function effect of variants. There is also the option to add other information including the dbSNP identifier, protein damage scores for missense variants, and conservation scores computed from multi-species alignments.

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.