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Now in its second edition, this atlas serves as an easy-to-use diagnostic guide for the analysis of the human karyotype. Split in four parts, it starts with a comprehensive introduction covering the molecular cytogenetic basics, the role of ethic committees and international quality control in the field of diagnostics. The main parts II and III, demonstrate the spectrum of the different types of chromosome abnormalities by a combination of karyogram and ideogram, it compares the expressiveness of different banding techniques, and it gives the karyotype formula and describes morphological peculiarities of each presented case. The final part, provides a detailed description of variants of non-coding DNA and focuses on potential problems in detecting aberrations and mentions necessary additional investigations and peculiarities, which have to be taken into account when counseling carriers of a chromosome aberration or their relatives. Given its comprehensive scope and practical approach, this atlas is an indispensable resource for researchers, clinicians and practitioners working in the field of cytogenetics and clinical genetics.
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Human genome. --- Genomes --- Human chromosomes
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In 1990, scientists began working together on one of the largest biological research projects ever proposed. The project proposed to sequence the three billion nucleotides in the human genome. The Human Genome Project took 13 years and was completed in April 2003, at a cost of approximately three billion dollars. It was a major scientific achievement that forever changed the understanding of our own nature. The sequencing of the human genome was in many ways a triumph for technology as much as it was for science. From the Human Genome Project, powerful technologies have been developed (e.g., microarrays and next generation sequencing) and new branches of science have emerged (e.g., functional genomics and pharmacogenomics), paving new ways for advancing genomic research and medical applications of genomics in the 21st century. The investigations have provided new tests and drug targets, as well as insights into the basis of human development and diagnosis/treatment of cancer and several mysterious humans diseases. This genomic revolution is prompting a new era in medicine, which brings both challenges and opportunities. Parallel to the promising advances over the last decade, the study of the human genome has also revealed how complicated human biology is, and how much remains to be understood. The legacy of the understanding of our genome has just begun. To celebrate the 10th anniversary of the essential completion of the Human Genome Project, in April 2013 Genes launched this Special Issue, which highlights the recent scientific breakthroughs in human genomics, with a collection of papers written by authors who are leading experts in the field.
Human genome. --- Genomes --- Human chromosomes
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Bioinformatics --- Human genome --- Computational biology --- Genomes --- Human chromosomes
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Human chromosome abnormalities. --- Human chromosomes --- Chromosome abnormalities --- Genetic disorders --- Abnormalities
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Cytogenetics. --- Cytology --- Genetics --- Human genome. --- Genomes --- Human chromosomes
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"Provides a comprehensive description of 22q11.2DS syndrome for healthcare professionals, researchers and students Presents diagnostic and treatment strategies to help tackle this complex and often misdiagnosed and undertreated syndrome Covered in a user-friendly, practical format that emphasizes evidence-based evaluation and treatment derived from the latest research in the field Features leading international contributors in various sub-specialties, representing the many body systems affected by this syndrome Includes full color figures, flow charts and tables to guide real-time decision-making"--
Human chromosomes. --- Chromosomes --- Human genetics --- Human chromosome abnormalities. --- DiGeorge Syndrome
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Plant genomics is the branch of science which studies the function and structure of genomes. This field mainly deals with DNA sequencing and genetic mapping. As a field of study, it is progressing at a rapid pace. This book provides comprehensive insights into this subject. Some of the topics discussed in this book focus on the recent advancements made in the area of plant genomics. It is an essential guide for the professionals related to this branch. As this field is emerging at a rapid pace, the contents of this book will help the readers understand the modern concepts and applications of the subject. This book presents the latest researches from all parts of the world to keep the readers updated with the current status of this field.
Genomics. --- Human genome. --- Genomes --- Human chromosomes --- Genome research --- Molecular genetics --- Research
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Human chromosomes --- Medical genetics --- Medical genetics --- Genetic Diseases, Inborn --- Genetics, Medical --- Phenotype --- Bibliography --- Bibliography --- Dictionaries
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Human genetics --- Chromosomes. --- Human chromosome abnormalities --- Medical genetics --- Clinical genetics --- Diseases --- Heredity of disease --- Medical sciences --- Pathology --- Genetic disorders --- Human chromosomes --- Chromosome abnormalities --- Chromosome --- Genetic aspects --- Abnormalities --- Human chromosome abnormalities. --- Human chromosomes. --- Medical genetics. --- Chromosomes
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