{"product_id":"9783032442123","title":"Vogel, Motulsky, and Antonarakis’ Human Genetics Problems and Approaches","description":"\u003ch1\u003eVogel, Motulsky, and Antonarakis’ Human Genetics\u003c\/h1\u003e\u003ch2\u003eProblems and Approaches\u003c\/h2\u003e\u003ch3\u003eStylianos E. Antonarakis | Cynthia C. Morton | Michael R. Speicher\u003c\/h3\u003e\u003cdiv\u003e\u003cb\u003eMedical \/ Genetics\u003c\/b\u003e\u003c\/div\u003e\u003cbr\u003e\u003cdiv\u003e\n\u003cp\u003eFirst published decades ago and revised across generations of genetic research, this classic reference has played a foundational role in shaping education and scholarship in human genetics. Its successive editions have documented the field’s evolution from classical cytogenetics and formal genetics to molecular genetics, genomics, data‑driven biomedical research, and integration of genetics in medicine and public health, while maintaining a rigorous conceptual framework.\u003c\/p\u003e\n\u003cp\u003eThe fully revised fifth edition continues this tradition by presenting an integrated account of the principles, methods, and applications that define contemporary human and medical genetics. Core topics include genome organization and variation, modes of inheritance, mutation mechanisms, population and evolutionary genetics, epigenetics, and cancer genetics. Reflecting major advances since the previous edition, the volume incorporates new and expanded chapters on three‑dimensional genome organization, somatic variation, Y‑chromosome biology, artificial intelligence in genetics, bioinformatics, and single‑cell and computational approaches to variant interpretation.\u003c\/p\u003e\n\u003cp\u003eThroughout the book, genetic theory is linked to medical and biological practice, with coverage of genetic epidemiology, prenatal and preimplantation testing, gene therapy, pharmacogenomics, aging, neurogenetics, and complex disease. Dedicated sections highlight the enduring importance of model organisms for understanding conserved genetic mechanisms, while a substantially restructured part on genomic databases and knowledge resources provides authoritative guidance to essential reference tools used in research and clinical genetics.\u003c\/p\u003e\n\u003cp\u003eBy combining historical perspective with current scientific practice, this edition offers a coherent and reliable reference for researchers, clinicians, and advanced students in human and medical genetics.\u003c\/p\u003e\n\u003cp\u003eChapter 21, 47, 48 and 57 are available under a Creative Commons Attribution 4.0 International License via link.springer.com.\u003c\/p\u003e\n\u003c\/div\u003e\u003cdiv\u003e\n\u003cp\u003e\u003cstrong\u003eStylianos E. Antonarakis\u003c\/strong\u003e,\u003cstrong\u003e \u003c\/strong\u003eMD, DSc, is a world-renowned human geneticist and Professor Emeritus of Genetic Medicine at the University of Geneva. Previously he was a professor of Genetics at the Johns Hopkins University school of Medicine. His pioneering research has transformed understanding of the relationship between genomic variation and human disease, with landmark contributions to the genetics of Down syndrome, inherited disorders, and functional genomics. He played a leading role in sequencing and annotating human chromosome 21 and has helped establish international standards for human genome research and variant interpretation. A former President of both the Human Genome Organization (HUGO) and the European Society of Human Genetics, and a member of the Swiss Academy of Medical Sciences he has authored more than 700 scientific publications and is among the world's most highly cited geneticists. His work has profoundly influenced genomic medicine, diagnostics, and rare disease research. He is a recipient of the prestigious William Allan 2019 award from the American Society of Human Genetics.\u003c\/p\u003e\n\u003cp\u003e\u003cstrong\u003eCynthia C. Morton\u003c\/strong\u003e, PhD, is a distinguished human geneticist and the William Lambert Richardson Professor of Obstetrics, Gynecology and Reproductive Biology and Professor of Pathology at Harvard Medical School. She is Director of Cytogenetics at Brigham and Women’s Hospital and an Institute Member of the Broad Institute. Her pioneering research spans molecular cytogenetics, hereditary hearing loss, uterine fibroids, chromosomal rearrangements, and developmental disorders, contributing to the discovery of genes underlying several human diseases. Dr. Morton has authored more than 340 peer-reviewed publications and has trained numerous clinical and research geneticists. A past President of the American Society of Human Genetics, she has also served as Editor of The American Journal of Human Genetics and continues to provide international leadership in human genetics research and genomic medicine.\u003c\/p\u003e\n\u003cp\u003e\u003cstrong\u003eMichael R. Speicher\u003c\/strong\u003e, MD (1960–2023), was an internationally recognized human geneticist and Professor and Chair of the Institute of Human Genetics at the Medical University of Graz, Austria. A pioneer in molecular cytogenetics, he developed innovative technologies for high-resolution chromosome analysis, including multicolor fluorescence in situ hybridization (M-FISH), and made major contributions to the study of genomic instability, cancer genetics, liquid biopsy, and single-cell genomics. His research advanced understanding of chromosomal alterations in hereditary disease, aging, and tumor evolution. Dr. Speicher authored more than 350 scientific publications and served as President of the Austrian Society of Human Genetics. An elected member of the German National Academy of Sciences Leopoldina, he was widely respected for his scientific leadership, technological innovation, and lasting contributions to human and medical genetics.\u003c\/p\u003e\n\u003c\/div\u003e\u003cbr\u003e\u003ctable\u003e\n\u003ctr\u003e\n\u003ctd\u003ePublication Date: \u003c\/td\u003e\n\u003ctd\u003e14 May 2027\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003ePublisher: \u003c\/td\u003e\n\u003ctd\u003eWellcome Trust\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eImprint: \u003c\/td\u003e\n\u003ctd\u003eSpringer\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eISBN-13: \u003c\/td\u003e\n\u003ctd\u003e9783032442123\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eFormat: \u003c\/td\u003e\n\u003ctd\u003eHardback\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003c\/table\u003e","brand":"Wellcome Trust","offers":[{"title":"Default Title","offer_id":62349757972620,"sku":"9783032442123","price":125.99,"currency_code":"USD","in_stock":true}],"url":"https:\/\/lateknightbooks.com\/products\/9783032442123","provider":"Late Knight Books and Services, LLC","version":"1.0","type":"link"}