Publications by authors named "P Thomas Blackburn"
An amplicon-based targeted next-generation sequencing (NGS) assay for the detection of gene fusions in sarcomas was developed, validated, and implemented. This assay can detect fusions in targeted regions of 138 genes and BCOR internal tandem duplications. This study reviews our experience with testing on the first 652 patients analyzed.
View Article and Find Full Text PDFPurpose: To assess the differences in variant classifications using the American College of Medical Genetics and Genomics and the Association for Molecular Pathology 2015 guidelines and the Bayesian point-based classification system (here referred to as the point system) in 115 hereditary cancer predisposition genes and explore variant sub-tiering by the point system.
Methods: Germline variant classifications for 721 pediatric patients from an in-house panel were retrospectively evaluated using the 2 scoring systems.
Results: A total of 2376 unique variants were identified, with ∼23.
Article Synopsis
- - This study examines the link between rare variants in the cullin-3 ubiquitin ligase (CUL3) gene and neurodevelopmental disorders (NDDs), gathering data from multiple centers to explore genetic mutations and their clinical impacts.
- - Researchers identified 37 individuals with CUL3 variants, most of which result in loss-of-function (LoF), leading to intellectual disabilities and possibly autistic traits; specific mechanisms affecting protein stability were also investigated.
- - The findings enhance the understanding of NDDs associated with CUL3 mutations, suggesting that LoF variants are the main cause, which could help inform future diagnostics and treatment strategies.
Article Synopsis
- Researchers identified bi-allelic disruptive variants as the cause of autosomal recessive intellectual developmental disorder type 65, while dominant variants are harder to link to specific traits due to their presence in unaffected individuals.
- The study involved a retrospective analysis of 21 individuals with likely pathogenic variants, focusing on clinical information and molecular data from their families.
- Key findings revealed that those with dominant disruptive variants exhibited more developmental and behavioral problems, while individuals with dominant missense variants had a higher occurrence of renal and skin anomalies, enhancing the understanding of the related neurodevelopmental disorder.
Article Synopsis
- Dysmorphologists face challenges due to the diverse phenotypic variability of human faces, particularly when using Next-Generation Phenotyping (NGP) tools, which are often trained on limited data.
- To address this, the GestaltMatcher Database (GMDB) was created, compiling over 10,980 facial images from various global populations, significantly improving the representation of underrepresented ancestries, especially African and Asian patients.
- The study found that incorporating data from non-European patients enhanced NGP accuracy by over 11% without compromising performance for European patients, highlighting the importance of diverse datasets in identifying genetic disorders.