Molecular Diagnostics & Diagnostic Imaging
Sensitive circulating tumor DNA–based residual disease detection in epithelial ovarian cancerTumor-guided circulating tumor DNA analysis achieves high sensitivity and specificity for post-operative surveillance of epithelial ovarian cancer, including the first test of assays targeting thousands of mutations.
Genetic structure and diversity of the rfb locus of pathogenic species of the genus LeptospiraThis study provides a broad investigation of the gene composition of the rfb locus, the main genetic factor associated with serology in Leptospira, and opens the way for molecular diagnostics in leptospirosis.
Single variant, yet “double trouble”: TSC and KBG syndrome because of a large de novo inversionShort-read genome sequencing identified an 87-Mb inversion in a patient with atypical Tuberous sclerosis. The inversion disrupts TSC2 and ANKRD11, resulting in dual diagnosis of TSC/KBG syndromes.
Cell-free chromatin immunoprecipitation to detect molecular pathways in heart transplantationCell-free DNA chromatin immunoprecipitation detects molecular pathways and profiles the sources of tissue injury in heart transplant patients.
Sensitive visualization of SARS-CoV-2 RNA with CoronaFISHWe design an RNA-FISH method to target the plus and minus strands of SARS-CoV-2 RNA, and apply it to image the virus in cell lines, lung tissue, and nasal swabs, by fluorescence and electron microscopy.
Engineered RNA biosensors enable ultrasensitive SARS-CoV-2 detection in a simple color and luminescence assayThis work reports engineered toehold RNA–based biosensors for COVID-19 diagnostics, with a simple color or luminescence readout that makes it easily deployable in both well-equipped labs as well as low resource settings.
A serum proteome signature to predict mortality in severe COVID-19 patientsA serum proteome panel, which includes several type-3 cystatins and inter-α-trypsin inhibitors, predicts mortality in severe COVID-19 patients very well, in three independent cohorts.
Prognostic accuracy of MALDI-TOF mass spectrometric analysis of plasma in COVID-19High mortality rate in SARS-CoV-2–infected individuals requires accurate markers for predicting COVID-19 severity. MALDI-TOF analysis revealed differential plasma levels of SAA1 and SAA2 associated with higher risk of hospitalization and can be used to improve COVID-19 monitoring and therapy.
Comparative genomics of Glandirana rugosa using unsupervised AI reveals a high CG frequencyGenome sequencing of a unique frog (Glandirana rugosa) having XY/ZW systems within the species and comparative genomics with other six frogs were performed using a batch-learning self-organizing map, which is unsupervised AI for oligonucleotide compositions, to clarify its genome characteristics.
Ubiquitin and SUMO conjugation as biomarkers of acute myeloid leukemias response to chemotherapiesThis study describes the identification of a new class of biomarkers of cancer response to therapies based on protein modification by ubiquitin and SUMO and developed tools to validate them in acute myeloid leukemia patient samples.