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Sema4 NIPT and Expanded Carrier Screening Tests

Sema4 has launched a noninvasive prenatal test and an expanded carrier screening test, which it developed using its Sema4 Health Intelligence Platform. The NIPT is available in three options: a standard panel that tests for trisomies 21, 18, and 13; a standard plus panel that also includes trisomies 15, 16, and 22, as well as sex chromosome aneuploidies; and an expanded panel that includes all of the above plus some microdeletions.

The expanded carrier screen can test more than 280 genes, including 101 genes associated with Jewish founder mutations. Patients also have the option of analyzing a smaller subset of genes.

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.