Mayo Clinic Laboratory and pathology research roundup: March 21
Share this:
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 comparisons of methylation and structural variants from low-input whole-genome methylation sequencing
Whole-genome methylation sequencing carries both DNA methylation and structural variant information (single nucleotide variant [SNV]; copy number variant [CNV]); however, limited data is available on the reliability of obtaining this information simultaneously from low-input DNA using various library preparation and sequencing protocols. Methods: A HapMap NA12878 sample was sequenced with three protocols (EM-sequencing, QIA-sequencing and Swift-sequencing) and their performance was compared on CpG methylation measurement and SNV and CNV detection. Results: At low DNA input (10-25 ng), EM-sequencing was superior in almost all metrics except CNV detection where all protocols were similar. EM-sequencing captured the highest number of CpGs and true SNVs.
Published to PubMed This Week
- Thyroblastoma-a primitive multilineage thyroid neoplasm with somatic DICER1 alteration
Endocrine Pathology - A novel APOA1 frameshift mutation Glu120Glyfs*60 with upper gastrointestinal involvement and an indolent course
Amyloid - Paraneoplastic neurologic disorders
Current neurology and neuroscience reports - Gastrointestinal glomus tumors: A single institution, 20-Year retrospective study.
The journal of surgical research - Toto, we're not in Kansas anymore: First reported case of M. persicum septic arthritis
Journal of tuberculosis and other mycobacterial diseases - Abnormal karyotype is an independent predictor of inferior survival in Blastic Plasmacytoid Dendritic Cell Neoplasm (BPDCN)
Blood cancer journal - Lawsonella clevelandensis, a case series of vascular graft infections caused by a rare pathogen.
ID cases - COL1A1 and COL1A2 variants in Ehlers-Danlos syndrome phenotypes and COL1-related overlap disorder
American journal of medical genetics - Clinical significance of anti-U1 ribonucleoprotein antibody is analyte dependent: Implications for laboratory reporting, interpretation, and interassay correlations
Archives of pathology of laboratory medicine
