University of Toronto
Candidate Hair Color Variants Identified in Meta-Analysis of Canadian Cohort
The study of more than 12,000 individuals also highlighted biological mechanisms that may affect pigmentation among humans.
Single-Cell Tumor Classifier Algorithm Unveiled at ASHG, Provides Tissue of Origin
The algorithm, which analyzes single-cell gene expression data, is better equipped to deal with interpatient heterogeneity in cancer cells than other methods.
Researchers Aim to Improve Lynch Syndrome Testing With Genetic-Epigenetic Combination Method
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The sequencing test involves a single library preparation that is then split for parallel analysis of promoter methylation, MSI calculation, and gene mutation detection.
CNV Analyses May Uncover Mendelian Conditions in Undiagnosed Pediatric Patients
Investigators diagnosed additional Mendelian conditions with copy number variant analyses on pediatric patients who remained undiagnosed after exome sequencing.
At the ASHG 2020 virtual meeting, researchers presented data showing they could use the method to enrich for placental DNA in maternal plasma samples.