Articles tagged with: Bioinformatics –
April 2016—With next-generation sequencing’s clear benefits—for diagnosis, prognosis, treatment, and trials—come its new challenges, and clinical laboratories are doing what it takes and sharing how. Two plenary speakers at last year’s meeting of the Association for Molecular Pathology spoke of variant calling in the bioinformatic pipeline and validation, and of clinical reporting. Colin Pritchard, MD, PhD, of the University of Washington and one of the speakers, sees reporting a genomic sequencing assay as more like making a histologic diagnosis, which he calls craftwork, than reporting a sodium value. “That’s an idea that hasn’t really permeated yet,” he said.
November 2014—When Birgit H. Funke, PhD, gave a talk earlier this year on incorporating bioinformatic tools and pipelines into medical NGS, at Molecular Medicine Tri-Con 2014, one of her slides showed the main bioinformatics activities needed to support sequencing. Among them were designing and building pipelines to manage genetic data, writing scripts for data analysis pipelines, and building custom applications.
October 2014—Last month the molecular and genomic pathology laboratory of the University of Pittsburgh Medical Center posted on the AMP listserv its requirements for a bioinformatics scientist to support next-generation sequencing for clinical testing.