Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

DOI :

10.3791/57266-v

•

9:34 min

•

April 4th, 2018

•

32,233 Views

¹Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, ²Department of Biochemistry, Schulich School of Medicine and Dentistry, Western University, ³Analytic and Translational Genetics Unit, Center for Genomic Medicine, Harvard Medical School, Massachusetts General Hospital, Stanley Centre for Psychiatric Research, Broad Institute of MIT and Harvard, ⁴Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, ⁵School of Medicine, Faculty of Health Sciences, Queen's University, ⁶Faculty of Medicine, Department of Biochemistry, Microbiology and Immunology, University of Ottawa, ⁷CHEO Research Institute, Faculty of Medicine, University of Ottawa, ⁸Department of Clinical Neurological Sciences, Western University, ⁹Division of Neurology, Department of Medicine, Sunnybrook Health Sciences Centre, University of Toronto, ¹⁰Division of Neurology, Department of Medicine, University of Toronto, ¹¹Morton and Gloria Shulman Movement Disorders Centre, Toronto Western Hospital, ¹²Department of Clinical Neurological Sciences, Schulich School of Medicine and Dentistry, Western University, ¹³Parkwood Institute, St. Joseph's Health Care, ¹⁴Department of Medicine, Division of Neurology, McMaster University, ¹⁵Division of Neurology, Department of Medicine, Baycrest Health Sciences, ¹⁶Canadian Partnership for Stroke Recovery Sunnybrook Site, Sunnybrook Health Science Centre, University of Toronto

Chapters

Targeted next-generation sequencing is a time- and cost-efficient approach that is becoming increasingly popular in both disease research and clinical diagnostics. The protocol described here presents the complex workflow required for sequencing and the bioinformatics process used to identify genetic variants that contribute to disease.

Related Videos

Detection of Copy Number Alterations Using Single Cell Sequencing

Optimization and Comparative Analysis of Plant Organellar DNA Enrichment Methods Suitable for Next-generation Sequencing

Amplification of Near Full-length HIV-1 Proviruses for Next-Generation Sequencing

High-throughput Identification of Gene Regulatory Sequences Using Next-generation Sequencing of Circular Chromosome Conformation Capture (4C-seq)

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Sequencing of mRNA from Whole Blood using Nanopore Sequencing

RNA Next-Generation Sequencing and a Bioinformatics Pipeline to Identify Expressed LINE-1s at the Locus-Specific Level

A Bioinformatics Pipeline to Accurately and Efficiently Analyze the MicroRNA Transcriptomes in Plants

A Complete Pipeline for Isolating and Sequencing MicroRNAs, and Analyzing Them Using Open Source Tools

Tomato Root Transformation Followed by Inoculation with Ralstonia Solanacearum for Straightforward Genetic Analysis of Bacterial Wilt Disease