Publications by authors named "V J Stinton"
Article Synopsis
- The study examines the integration of genomic data across NHS laboratories in England and Wales, highlighting variations in data structure, quality, and ease of local assembly for cancer susceptibility gene testing.
- A survey of 51 clinical scientists revealed significant differences in how variant data is transferred, formatted, and classified within Laboratory Information Management Systems (LIMS) across the participating labs.
- The findings indicate that current workflows are often inefficient and prone to errors due to their manual nature, suggesting that implementing recommended improvements could streamline data submission processes for better national and international collaboration.
Article Synopsis
- * Individual-level data from 16,722 patients, with the earliest submission dating back to 2000, revealed that over 60% of NHS MMR analyses were captured in the NDRS, with colorectal cancer being the most common cancer studied.
- * The NDRS dataset represents a comprehensive collection of clinical and genomic patient information, which can support ongoing research and potentially lead to the creation of a national genomic disease registry.
Multiple mitochondrial DNA deletions in monozygotic twins with OPMD.
J Neurol Neurosurg Psychiatry
January 2008
Background: Oculopharyngeal muscular dystrophy (OPMD) is caused by expansions of the poly (A) binding protein 2 (PABP2) gene. Previous histological analyses have revealed mitochondrial abnormalities in the muscles of OPMD patients but their significance remains uncertain.
Objective: We had the rare opportunity to study monozygotic twins with identical expansions of the PABP2 gene but with markedly different severities of OPMD.