June Newsletter: Accelerating Genomic Medicine
A Study Characterizes the Neuropsychological Phenotype of KAT6A Syndrome
Genetic variants have direct role in influencing epigenetic machinery. KAT6A (Arboleda-Tham) syndrome, a genetic disorder affecting the epigenetic machinery, leads to intellectual disability and speech impairments. Although some of the symptoms are identified from patients with similar variants, the extent of impact on neurophysiological areas are still unclear.
In this study, researchers have characterized the neurobehavioral functioning and nonverbal cognition in 15 patients with KAT6A syndrome. To date, this is the first study to characterize the full neuropsychological phenotype of KAT6A syndrome.
Uncovering TREM2's Role in Glioblastoma: A Game Changer for Cancer Therapy
Glioblastomas (GBM) are aggressive brain cancers with significant myeloid cell infiltration. There are myeloid cell-directed therapeutic targets identified in peripheral non-CNS cancers. However, the applicability to GBM requires further study.?This study characterizes the distinct role of TREM2 as a protective factor in GBM. TREM2 is one of the therapeutic targets in peripheral cancer, however, deficiency of TREM2 causes acceleration of GBM progression. Significant Down-regulation of TREM2 was observed in GBM-infiltered cells.
The Great Bottleneck: Variant Interpretation
The average human genome encompasses over 4 million variants, impacting a vast array of more than 20,000 protein-coding genes. Unraveling the significance of each variant in human diseases, traits, and the origin of species is a long quest. Variant interpretation remains the major bottleneck in clinical genomics. The ever-growing list of variants of uncertain significance (VUSs) adding more complexity into the diagnostic yield. Along with long read sequencing technology development ( PacBio , Oxford Nanopore Technologies , Illumina ), we need to put emphasis on variant interpretation. Our recent poll suggests, more than anything, clinical data sharing is the best approach to resolve VUS and increase diagnostic yield.
领英推荐
Introducing Trio Analysis for Structural Variants (SVs) in GenomeArc’s Horizon Platform!
GenomeArc HORIZON? is now equipped with trio Structural variant (SVs) module. Now you can analyze (detect de novo SV, and classify pathogenicity) trio samples with ease at the speed of minutes! The analysis sensitivity is above 90% for pathogenicity prediction, enabling ultra-fast diagnosis from SV analysis.
Learn more about GenomeArc HORIZON https://genomearc.com/horizon
Interested in trying it with your data, book a demo here: https://genomearc.com/
Affiliation Agreement between GenomeArc and Humber College
We're thrilled to announce a formal affiliation agreement between GenomeArc and Humber College! Humber college is located in Ontario, Canada and is one of the leading institutes in post-secondary education. This collaboration will unlock new internship opportunities for students, and researchers in the field of genomics in Ontario.
GenomeArc Exhibited at PrecisionMed Exhibition and Summit
With new features, GenomeArc HORIZON v1.2 platform for tertiary analysis has been rolled out at PrecisionMed Exhibition & Summit , Dubai World Trade Center. Features include the application of large language model for phenotype detection, trio analysis and somatic mutation detection from tumor-germline paired vcf data.
#cancer #precisionmedicine #rarediseases #genomics #genomesequencing