Mayo Clinic Laboratory and pathology research roundup: March 21

By Chantell Canfield • March 21, 2023

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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 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.

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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
  

Chantell Canfield

Chantell Canfield is a web content coordinator for Mayo Clinic Laboratories. She began working for Mayo Clinic in 2021.