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Claritas Genomics HLH/MAS Region of Interest Test

Claritas Genomics has launched the Hemophagocytic Lymphohistiocytosis/Macrophage Activation Syndrome (HLH/MAS) Region of Interest test to its menu of exome-based molecular diagnostic testing. The test encompases 20 genes relevant to autosomal recessive or x-linked primary HLH and auto-inflammatory disease that can trigger MAS. It also identifies variants in exons and adjacent intronic sequences and detects deep intronic variants in UNC13D. The assay uses the company's dual-capture, dual sequencing platform method.

The Scan

Germline-Targeting HIV Vaccine Shows Promise in Phase I Trial

A National Institutes of Health-led team reports in Science that a broadly neutralizing antibody HIV vaccine induced bnAb precursors in 97 percent of those given the vaccine.

Study Uncovers Genetic Mutation in Childhood Glaucoma

A study in the Journal of Clinical Investigation ties a heterozygous missense variant in thrombospondin 1 to childhood glaucoma.

Gene Co-Expression Database for Humans, Model Organisms Gets Update

GeneFriends has been updated to include gene and transcript co-expression networks based on RNA-seq data from 46,475 human and 34,322 mouse samples, a new paper in Nucleic Acids Research says.

New Study Investigates Genomics of Fanconi Anemia Repair Pathway in Cancer

A Rockefeller University team reports in Nature that FA repair deficiency leads to structural variants that can contribute to genomic instability.