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SoftGenetics GeneMarker HTS Software

SoftGenetics has launched GeneMarker HTS software for analysis of the mitochondrial genome in both forensic and clinical research applications. The software provides a streamlined workflow for forensic and medical research mitochondrial NDa data analysis from next-generation sequencing systems such as the Illumina and Ion Torrent platforms. It aligns data to a reference, and optimizes detection of INDELS and discovering variants, including SNPs, INDELS, and heteroplasmy. The software also includes quick export to EMPOP, user management, audit trail capabilities, synchronized comparison of multiple samples, customizable viewing, and reporting to protect health information.

The Scan

Long COVID-19 Susceptibility Clues Contained in Blood Plasma Proteome

A longitudinal study in eBioMedicine found weeks-long blood plasma proteome shifts after SARS-CoV-2 infection, along with proteomic signatures that appeared to coincide with long Covid risk.

Tibetan Study Finds Adaptive Variant Influencing Skin Pigmentation

With a combination of phenotyping and genetic data, researchers document at PNAS a Tibetan-enriched enhancer variant influencing melanin synthesis and ultraviolet light response.

Domestication Linked to Nervous System Genes in Inbred Mouse Strains

Researchers highlighted more than 300 positively selected genes in domesticated mice, including genes linked to nervous system function or behavior in Genome Biology.

ALS Genetic Testing May Be Informative Across Age Ranges, Study Finds

Researchers in the journal Brain identified clinically actionable variants in a significant subset of older ALS patients, prompting them to point to the potential benefits of broader test use.