Mayo Clinic laboratory and pathology research roundup: February 23
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.
The Trans-Omics for Precision Medicine (TOPMed) programme seeks to elucidate the genetic architecture and biology of heart, lung, blood and sleep disorders, with the ultimate goal of improving diagnosis, treatment and prevention of these diseases. The initial phases of the programme focused on whole-genome sequencing of individuals with rich phenotypic data and diverse backgrounds. Here we describe the TOPMed goals and design as well as the available resources and early insights obtained from the sequence data. The resources include a variant browser, a genotype imputation server, and genomic and phenotypic data that are available through dbGaP (Database of Genotypes and Phenotypes)1. In the first 53,831 TOPMed samples, we detected more than 400 million single-nucleotide and insertion or deletion variants after alignment with the reference genome. Additional previously undescribed variants were detected through assembly of unmapped reads and customized analysis in highly variable loci. Among the more than 400 million detected variants, 97% have frequencies of less than 1% and 46% are singletons that are present in only one individual (53% among unrelated individuals). These rare variants provide insights into mutational processes and recent human evolutionary history. The extensive catalogue of genetic variation in TOPMed studies provides unique opportunities for exploring the contributions of rare and noncoding sequence variants to phenotypic variation. Furthermore, combining TOPMed haplotypes with modern imputation methods improves the power and reach of genome-wide association studies to include variants down to a frequency of approximately 0.01%. Via Nature
Published to PubMed This Week
- Validation of a 22-gene genomic classifier in patients with recurrent prostate cancer: An ancillary study of the NRG/RTOG 9601 randomized clinical trial.
- LUZP4 autoantibody: A novel germ cell tumor and paraneoplastic biomarker.
- Antibacterial resistance leadership group 2.0 - back to cusiness.
Clinical Infectious Disease
- Slowly unraveling the mysteries of C3G.
American Journal of Kidney Disease
- Genetic variations and health-related quality of life (HRQOL): A genome-wide study approach.
- Clinical correlates and prognostic impact of clonal hematopoiesis in multiple myeloma patients receiving post-autologous stem cell transplantation lenalidomide maintenance therapy.
American Journal of Hematology
- Expanding the phenotype, genotype and biochemical knowledge of ALG3-CDG.
Journal of Inherited Metabolic Disease
- TAR DNA-binding protein 43 is associated with rate of memory and functional and global cognitive decline in the decade prior to death.
Journal of Alzheimers Disease
- "False positives in thyroglobulin determinations due to the presence of heterophile antibodies: an underrecognized and consequential clinical problem.".
- COVID-19 convalescent plasma: interim recommendations from the AABB.