Clinical DNA Variant Interpretation Theory and Practice Translational and Applied Genomics Series

Clinical DNA Variant Interpretation: Theory and Practice, a new volume in the Translational and Applied Genomics series, covers foundational aspects, modes of analysis, technology, disease and disorder specific case studies, and clinical integration. This book provides a deep theoretical background, as well as applied case studies and methodology, enabling researchers, clinicians and healthcare providers to effectively classify DNA variants associated with disease and patient phenotypes. Practical chapters discuss genomic variant interpretation, terminology and nomenclature, international consensus guidelines, population allele frequency, functional evidence transcripts for RNA, proteins, and enzymes, somatic mutations, somatic profiling, and much more.

Active researchers, basic and translational scientists, and clinicians in the areas of human genetics, genomics, reproductive medicine, gynecology, obstetrics, internal medicine, oncology, psychiatry, neurology, immunology, embryology, endocrinology, bioinformatics, prenatal testing, psychology, psychiatry, and genetic testing; genetic counselors; bioethicists; fertility specialists; hospital administrators

Conxi Lázaro PhD, is Head of the Molecular Diagnostic Laboratory, Hereditary Cancer Program, Catalan Institute of Oncology-IDIBELL-CIBERONC at Hospitalet de Llobregat, Barcelona, Spain. Dr Lazaro is a molecular geneticist with more than 25 years of experience in the field of human genetics. She did her PhD in Human Genetics at University of Barcelona. She has worked in several clinical hospitals in Barcelona. She was an invited professor at Massachusetts General Hospital Cancer Center at Boston in 2003/04 and did a sabbatical stay at Mount Sinai Hospital and at Women's College Hospital in Toronto in 2018/19. In the last ten years she has been involved in several projects aimed at using Next Generation Sequencing (NGS) for genetic testing purposes. Her field of expertise is Hereditary Cancer although she has worked on other genetic disorders. Of relevance was her pivotal research in the genetic basis of Neurofibromatosis type 1 (NF1) since the gene was discovered and her current work on the development of new therapeutic strategies for malignant tumors associated with NF1. She is member of several reputable international consortia and associations such as CIMBA, ENIGMA, CTF, GENTURIS and had been member of the Scientific Program Committee of the ESHG as well as treasurer of the Spanish association of human genetics (ASHG).
Dr. Jordan Lerner-Ellis has 20 years of experience in molecular genetics and diagnostics. He is Director & Head of Advanced Molecular Diagnostics in the department of Pathology and Laboratory Medicine at Toronto’s Mount Sinai Hospital, Sinai Health System; Associate Professor at the University of Toronto, Laboratory Medicine & Pathobiology; and Clinician Scientist at the Lunenfeld-Tanenbaum Research Institute. His laboratory provides clinical diagnostic services for hereditary breast, ovarian and colon cancer, and other genetic testing areas, for Toronto and the province of Ontario. Dr Lerner-Ellis completed his PhD in human genetics at McGill