The Scan
Cystatin C Plays Role in Immunosuppression, Cancer Immunotherapy Failure, Study Finds
A study in Cell Genomics provides insight into how glucocorticoids can lead to cancer immunotherapy failure via cystatin C production.
Aging, Species Lifespan Gene Expression Signatures Overlap
An Osaka Metropolitan University team reports in Nucleic Acids Research that transcriptional signatures of aging and maximum lifespan have similarities.
Splicing Subgroup Provides Protocols for Evaluating Splicing Variant Data
The group presents their approach on how to apply evidence codes to splicing predictions and other data in the American Journal of Human Genetics.
Single-Cell Transcriptomic Atlas of Mouse Cochlea to Aid Treatment Development
Researchers in PNAS conducted single-cell and single-nuclear sequencing of about 120,000 cells at three key timepoints in cochlear development to generate a transcriptomic atlas.
Analysis Finds Clinical Utility of Rapid Exome Sequencing in Consanguineous Population
A new Genome Medicine study finds that in 79 of 80 cases with positive molecular findings, there was also clinical utility of the findings.
Rare, X-Linked Variants in DOCK11 Implicated in Handful of Patients
Researchers report in the New England Journal of Medicine that DOCK11 gene variants appear to affect T cell development and lead to their overactivation.
Team Tracks Immune T Cell Consequences of Y Chromosome Loss, Bladder Cancer Consequences
A Nature study delving into Y chromosome-related cancer features in men highlights aggressive bladder cancer cases and related immune effects in men with Y chromosome loss.
Hippocampal Trait GWAS Lead to Associations Across, Within Ancestry Groups
Researchers reporting in Nature Genetics describe hundreds of variant associations linked to hippocampal volume traits in individuals of European and non-European ancestry.
Conservation Genomic Study Uncovers Citrus Crop Clues in Wild Plant Relatives
A PLOS Genetics paper reports on conservation genomic findings found by resequencing 73 Fortunella accessions, representing plants related to cultivated kumquats.
New Model to Understand Phenotypic Presentation of Mendelian Disease in Electronic Health Records
A new study in Genetics in Medicine investigates the phenotypic presentation of Mendelian disease across the diagnostic trajectory in electronic health records.