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Monday, June 19, 2017

At SMRT Leiden, Improvements in Characterizing Genomes, Transcriptomes, and Methylomes

Last month, we co-hosted the 2nd annual SMRT Leiden conference with Leiden University Medical Center. SMRT Leiden featured three days of excellent presentations, including one day focused on bioinformatics. If you missed it, we’ve prepared this quick recap to cover the highlights. In addition, several of the presentations are available to download, and you can check out tweets from day 1 and day 2. The meeting kicked off with a clinical angle: Eric Schadt from the Icahn School of Medicine at Mount Sinai gave a keynote talk about capturing the clinically actionable genome. Noting that we are in an age…

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Monday, May 1, 2017

SMRT Sequencing Enables Accurate Calling of Pathogenic Variants in Medically Relevant Genes

Screening for pathogenic variants associated with polycystic kidney disease is now more accurate and affordable with SMRT Sequencing. A new paper in Human Mutation from scientists at Leiden University Medical Center and other institutes reports the evaluation of long-read PacBio sequencing as a potential replacement for costly, time-consuming Sanger pipelines. “Detecting PKD1 variants in polycystic kidney disease patients by single-molecule long-read sequencing” comes from lead author Daniel Borràs, senior author Seyed Yahya Anvar, and collaborators. The team notes that previous efforts to get away from conventional tools by implementing short-read sequencing were never successful enough for clinical use. “A genetic diagnosis of…

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