Publications by authors named "Laura Dutton"
Article Synopsis
- * A custom SureSelect target enrichment assay was modified to improve its effectiveness in sequencing adenoviruses from clinical samples, leading to successful whole genome sequencing of 91.6% of samples.
- * While the modified protocol shows good performance, particularly with respiratory and fecal samples, further investigation is needed due to some variations in enrichment success based on sample type and adenovirus concentration.
Article Synopsis
- The study explores the importance of efficient variant interpretation in diagnostic laboratories, particularly with the growing use of clinical exome sequencing (CES) for rare monogenic disorders.
- A retrospective analysis of 400 cases is conducted to evaluate the effectiveness of a clinician-led and phenotype-based method for creating customized virtual gene panels for CES.
- Findings reveal that the approach, which focuses on specific clinical features, achieved a 24% diagnostic rate while efficiently managing variant workload, showing it to be a cost-effective solution for genomic sequencing in clinical settings.
Article Synopsis
- - The study aimed to compare different methods for detecting EGFR mutations in tumor samples from patients with non-small cell lung cancer, as these mutations help predict responses to specific treatments.
- - Eleven laboratories tested coded samples with mutation levels ranging from 0% to 15%, focusing on two key mutations, p.L858R and c.2235_2249del, which are common in about 90% of mutation-positive cases.
- - Results showed that various techniques like Sanger sequencing and pyrosequencing had better sensitivity than previously reported levels, with a 96% detection rate for samples containing at least 5% mutated DNA, indicating that multiple testing methods are effective for identifying EGFR mutations.
Background & Aims: Patients with severe bile salt export pump (BSEP) deficiency present as infants with progressive cholestatic liver disease. We characterized mutations of ABCB11 (encoding BSEP) in such patients and correlated genotypes with residual protein detection and risk of malignancy.
Methods: Patients with intrahepatic cholestasis suggestive of BSEP deficiency were investigated by single-strand conformation polymorphism analysis and sequencing of ABCB11.