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Sequencing Study Reveals Novel Risk Genes of Pituitary Neuroendocrine Tumors

A whole-exome analysis of individuals with pituitary neuroendocrine tumors (PitNET) is presented in PLOS One this week, revealing novel genes associated with risk of developing the cancer. Somatic genetic alterations in PitNET tissues have been previously identified, but the detection of overlapping somatic PitNET candidate genes is rare. In this study, a team led by scientists from the Latvian Biomedical Research and Study Centre performed exome sequencing on blood and PitNET tissue from 15 patients, analyzing the resulting data using two somatic variant detection algorithms. Among the findings were two previously unidentified PitNET candidate genes with recurrent somatic variants, as well as 13 genes overlapping with hits from previous PitNET studies that contain somatic variants. The work, the study's authors write, demonstrates that "the use of multiple sequencing data analysis pipelines can provide more accurate identification of somatic variants in PitNETs."

The Scan

Open Pediatric Brain Tumor Atlas Team Introduces Genomic Data Collection, Analytical Tools

A study in Cell Genomics outlines open-source methods being used to analyze and translate whole-genome, exome, and RNA sequence data from the Pediatric Brain Tumor Atlas.

Neurological Outcomes Linked to Innate Immune Features After Cardiac Arrest

Researchers reporting in Med dig into immune features found a few hours after cardiac arrest that correspond with neurological outcomes.

Mouse Study Finds Circadian Rhythm-Related Gene Expression Changes Linked to Sleep Apnea

A paper in PLOS Biology reveals tissue-specific circadian rhythm and gene expression patterns in an intermittent hypoxia-based mouse model of obstructive sleep apnea.

Polygenic Risk Score to Predict Preeclampsia, Gestational Hypertension in Pregnant Women

Researchers in Nature Medicine provide new mechanistic insights into the development of hypertensive disorders of pregnancy, which may help develop therapeutics.