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PierianDx Clinical Interpretation Services

PierianDx is launching clinical interpretation as part of its next-generation sequencing services portfolio. Customers will be able to select from a menu of options. Variant scientist review, conducted by PierianDx cancer biologists and genetics professionals, will provide variant classification and annotation. Medical director review, conducted by board-certified molecular pathologists and medical geneticists, will provide assessments of variants' medical significance, including recommended therapeutic options, disease monitoring, clinical trial enrollment, or genetic counseling. Options for direct consultation or participation on molecular tumor boards are also available. Sign-out services, conducted by PierianDx medical directors with the appropriate state licensures, will provide sign-out for cases previously reviewed by interpretation services.

The Scan

Octopus Brain Complexity Linked to MicroRNA Expansions

Investigators saw microRNA gene expansions coinciding with complex brains when they analyzed certain cephalopod transcriptomes, as they report in Science Advances.

Study Tracks Outcomes in Children Born to Zika Virus-Infected Mothers

By following pregnancy outcomes for women with RT-PCR-confirmed Zika virus infections, researchers saw in Lancet Regional Health congenital abnormalities in roughly one-third of live-born children.

Team Presents Benchmark Study of RNA Classification Tools

With more than 135 transcriptomic datasets, researchers tested two dozen coding and non-coding RNA classification tools, establishing a set of potentially misclassified transcripts, as they report in Nucleic Acids Research.

Breast Cancer Risk Related to Pathogenic BRCA1 Mutation May Be Modified by Repeats

Several variable number tandem repeats appear to impact breast cancer risk and age at diagnosis in almost 350 individuals carrying a risky Ashkenazi Jewish BRCA1 founder mutation.