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Genetic Heterogeneity: The presence of apparently similar characters for which the genetic evidence indicates that different genes or different genetic mechanisms are involved in different pedigrees. In clinical settings genetic heterogeneity refers to the presence of a variety of genetic defects which cause the same disease, often due to mutations at different loci on the same gene, a finding common to many human diseases including Alzheimer disease; Cystic fibrosis; Lipoprotein lipase deficiency, Familial; and Polycystic kidney diseases. (Rieger, et al., Glossary of Genetics: Classical and Molecular, 5th ed; Segen, Dictionary of Modern Medicine, 1992)

Building Up a High-throughput Screening Platform to Assess the Heterogeneity of HER2 Gene Amplification in Breast Cancers

1Division of Pathology, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, 2School of Medicine, University of Milan, 3School of Biology, University of Pavia, 4Division of Breast Surgery, Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico, 5Division of Medical Oncology, Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico, 6Department of Biomedical, Surgical, and Dental Sciences, University of Milan

JoVE 56686


 Immunology and Infection

Detection of Copy Number Alterations Using Single Cell Sequencing

1Koch Institute for Integrative Cancer Research, Department of Biology, Massachusetts Institute of Technology, 2Howard Hughes Medical Institute, 3Division of Health Sciences and Technology, Harvard Medical School, 4The Barbara K. Ostrom (1978) Bioinformatics and Computing Facility in the Swanson Biotechnology Center, Koch Institute for Integrative Cancer Research, Massachusetts Institute of Technology, 5BioMicro Center, Department of Biology, Massachusetts Institute of Technology

JoVE 55143


 Genetics

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

1Molecular Genetics of Chronic Inflammation and Allergic Disease, Max-Delbrück Center for Molecular Medicine, 2Murdoch Childrens Research Institute, 3Department of Paediatrics, University of Melbourne, 4Centre for Social and Early Emotional Development, Faculty of Health, Deakin University, 5Department of Paediatrics, University of Western Australia

JoVE 57601


 Genetics

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

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

JoVE 57266


 Genetics

Working with Human Tissues for Translational Cancer Research

1Department of Surgical Oncology, University of Texas MD Anderson Cancer Center, 2Department of Genomic Medicine, University of Texas MD Anderson Cancer Center, 3Department of Pathology and Institutional Tissue Bank, University of Texas MD Anderson Cancer Center

JoVE 53189


 Medicine

A Murine Model of Cervical Spinal Cord Injury to Study Post-lesional Respiratory Neuroplasticity

1UFR des sciences de la santé - Simone Veil, Université de Versailles Saint-Quentin-en-Yvelines, 2Service de Physiologie - Explorations fonctionnelles, Hôpital Ambroise Paré, 3Services de Physiologie, Explorations Fonctionnelles, Réanimation Médicale et Centre d'Investigation Clinique et d'Innovation Technologique (Unité Inserm 805), Université de Versailles Saint-Quentin-en-Yvelines

JoVE 51235


 Medicine

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