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Downloads and Upgrades: SeqMan NGen and Pro, SZYBKI 1.8, and Syapse for Labs


DNAStar has added SeqMan NGen and SeqMan Pro applications to BaseSpace Apps, Illumina's store for cloud-based bioinformatics applications.

The addition means that BaseSpace users can now license DNAStar's software for one, two, or three days and use its workflows to run de novo or reference-guided sequence assemblies. The apps also provide visualization, analysis, and filtering capabilities.

OpenEye Scientific Software has released SZYBKI 1.8. This version features several fixes, a new utility program called FreeForm, a new forcefield for protein-ligand interactions, as well as improvements to entropy calculations and the optimization process.

Syapse has released a new clinical omics reporting application called Syapse for Labs that provides diagnostic laboratories with tools for generating molecular profiling test reports.

The software lets users manage patients' clinical information, omics data, and supporting laboratory data and it stores biomedical evidence, such as variant interpretation, in a versioned knowledge base. Also, patient test reports are automatically assembled by a configurable rules engine, which updates reports as the evidence in the knowledge base evolves.

The Scan

UK Pilot Study Suggests Digital Pathway May Expand BRCA Testing in Breast Cancer

A randomized pilot study in the Journal of Medical Genetics points to similar outcomes for breast cancer patients receiving germline BRCA testing through fully digital or partially digital testing pathways.

Survey Sees Genetic Literacy on the Rise, Though Further Education Needed

Survey participants appear to have higher genetic familiarity, knowledge, and skills compared to 2013, though 'room for improvement' remains, an AJHG paper finds.

Study Reveals Molecular, Clinical Features in Colorectal Cancer Cases Involving Multiple Primary Tumors

Researchers compare mismatch repair, microsatellite instability, and tumor mutation burden patterns in synchronous multiple- or single primary colorectal cancers.

FarGen Phase One Sequences Exomes of Nearly 500 From Faroe Islands

The analysis in the European Journal of Human Genetics finds few rare variants and limited geographic structure among Faroese individuals.