Mayo Clinic laboratory and pathology research roundup: March 16
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
- IASLC global survey on PD-L1 testing for non-small cell lung cancer.
Journal of Thoracic Oncology
- Determinants and consequences of heart rate and stroke volume response to exercise in patients with heart failure and preserved ejection fraction.
European Journal of Heart Failure
- Safety and efficacy of daratumumab in patients with proliferative GN with monoclonal immunoglobulin deposits.
Journal of American Society of Nephrology
- Generative adversarial networks to synthesize missing T1 and FLAIR MRI sequences for use in a multisequence brain tumor segmentation model.
- MASS-FIX for the detection of monoclonal proteins and light chain N-glycosylation in routine clinical practice: a cross-sectional study of 6315 patients.
Blood Cancer Journal
- Pheochromocytoma in multiple endocrine neoplasia type 2.
Mayo Clinic Proceedings
- Outcomes of COVID-19 With the Mayo Clinic Model of Care and Research.
Mayo Clinic Proceedings
- Clearing drug interferences in myeloma treatment using mass spectrometry.
- Prediction of death after noncardiac surgery: Potential advantage of using high-sensitivity troponin t as a continuous variable.
Journal of American Heart Association
- Clinical manifestations of, diagnostic approach to, and treatment of neurolymphomatosis in the rituximab era.