Mayo Clinic Laboratory and pathology research roundup: September 21
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The research roundup provides an overview of the past week’s research from Mayo Clinic Laboratories consultants, including featured abstracts and a complete list of published studies and reviews.
Featured Abstract
Performance assessment of DNA sequencing platforms in the ABRF Next-Generation Sequencing Study.
Assessing the reproducibility, accuracy and utility of massively parallel DNA sequencing platforms remains an ongoing challenge. Here the Association of Biomolecular Resource Facilities (ABRF) Next-Generation Sequencing Study benchmarks the performance of a set of sequencing instruments (HiSeq/NovaSeq/paired-end 2 × 250-bp chemistry, Ion S5/Proton, PacBio circular consensus sequencing (CCS), Oxford Nanopore Technologies PromethION/MinION, BGISEQ-500/MGISEQ-2000 and GS111) on human and bacterial reference DNA samples. Among short-read instruments, HiSeq 4000 and X10 provided the most consistent, highest genome coverage, while BGI/MGISEQ provided the lowest sequencing error rates. The long-read instrument PacBio CCS had the highest reference-based mapping rate and lowest non-mapping rate. The two long-read platforms PacBio CCS and PromethION/MinION showed the best sequence mapping in repeat-rich areas and across homopolymers. NovaSeq 6000 using 2 × 250-bp read chemistry was the most robust instrument for capturing known insertion/deletion events. This study serves as a benchmark for current genomics technologies, as well as a resource to inform experimental design and next-generation sequencing variant calling. Via PubMed
Published to PubMed This Week
- Hypertrophic cardiomyopathy in the general population: leveraging the UK biobank database and machine learning phenotyping.
Journal of the American College of Cardiology - Exercise intolerance in older adults with heart failure with preserved ejection fraction: JACC state-of-the-art review.
Journal of the American College of Cardiology - Survey finds gender disparities impact both women mentors and mentees in gastroenterology.
The American Journal of Gastroenterol - Establishing key research questions for the implementation of artificial intelligence in colonoscopy: a modified Delphi method.
Endoscopy - Cerebral amyloid angiopathy pathology and its association with amyloid-β PET signal.
Neurology - Clinical correlation of multiple sclerosis immunopathologic subtypes.
Neurology - Association of varying clinical manifestations and positive anti-SARS-CoV-2 IgG antibodies: A cross-sectional observational study.
The Journal of Allergy and Clinical Immunology - Membranous nephropathy with extensive tubular basement membrane deposits following allogeneic hematopoietic cell transplant: A report of 5 cases.
American Journal of Kidney Disease - AACC practical recommendations for implementing and interpreting SARS-CoV-2 emergency use authorization and laboratory-developed test serologic testing in clinical laboratories.
Clinical Chemistry - Circulating cell-free DNA-based detection of tumor suppressor gene copy number loss and its clinical implication in metastatic prostate cancer.
Frontiers in Oncology
