Advances in vision research. Genetic eye research in Asia and the Pacific / Volume I, (2017)

• Record Type: Book
• Other Titles: Genetic eye research in Asia and the Pacific
• Further Information: Note: Gyan Prakash, Takeshi Iwata, editors.
• Editors: Prakash, Gyan; Iwata, Takeshi
• Contents: Foreword; Preface; Contents; 1: Asian Eye Genetics Consortium (AEGC); 1.1 Introduction; 1.2 The Initial Concept of Asian Eye Genetics Consortium(AEGC); 1.3 The Goals of AEGC; 1.4 AEGC Activities in Asian Countries; 1.5 Growing AEGC Members and Researcher Exchange Programs; 1.6 AEGC Database Construction; 1.7 Summary; 2: Japan Eye Genetics Consortium (JEGC) for Hereditary Retinal Diseases; 2.1 Introduction; 2.2 Short History of the Consortium; 2.3 Disease, Diagnostic, and Disease Leader; 2.4 Structure of Sample and Data Flow of the Consortium; 2.5 Online Patient Registration System. 2.6 Collected Pedigree by Disease Type2.7 Whole Exome Analysis; 2.8 Result of the Genetic Analysis of the Japanese Population; 2.9 Construction of Patient-Derived iPS Cells and Gene Knock-In Animal Models; 2.10 Development of Genotype-Phenotype Database; 2.11 Discussion and Future Prospects; References; 3: Whole Genome Sequencing in Genetic Eye Diseases; 3.1 Introduction; 3.2 Advantages of Whole Genome Sequencing; 3.3 Procedures of Whole Genome Sequencing; 3.3.1 Mapping and Variant Calling; 3.4 Filtering Strategy; 3.5 Applications of Whole Genome Sequencing in Genetic Eye Diseases. 3.5.1 Inherited Retinal Dystrophy3.6 Syndromic Eye Diseases and Anophthalmia; 3.7 Age-Related Macular Degeneration; 3.8 Retinoblastoma; 3.9 Limitations and Challenges of WGS; 3.10 Conclusions; References; 4: Targeted Exome Sequencing in Japanese Patients with Retinitis Pigmentosa; 4.1 Introduction; 4.2 Pros and Cons of Targeted Exome Sequencing; 4.3 Laboratory; 4.3.1 Principal of Targeted Exome Sequencing; 4.3.2 Data Analysis; 4.3.3 Example of Practice; 4.3.3.1 Data Acquisition; 4.3.3.2 Data Analysis; 4.4 Epidemiology; 4.5 Compliance with Ethical Requirements; References. 5: Genetic Epidemiology of Congenital Cataracts and Autosomal Recessive Retinal Degenerations in Pakistan5.1 Pakistani Population Characteristics; 5.2 Collaboration Between the NEI, the CEMB, and AIMC; 5.3 Approaches to Identifying Genes and Loci; 5.3.1 Linkage Analysis; 5.3.2 Homozygosity Mapping; 5.4 Examples of Novel Genes Identified; 5.4.1 Cataract; 5.4.1.1 CRYBB3: Gene and Function; 5.4.1.2 FYCO1: Gene and Function; 5.4.1.3 EPHA2: Gene and Function; 5.4.2 Retinal Dystrophy; 5.4.2.1 ZNF513: Gene and Function; 5.4.2.2 SLC24A1: Gene and Function. 5.5 Mutation Spectrum of arCC and arRD in Consanguineous Pakistani Families5.5.1 Cataract; 5.5.2 Autosomal Recessive Retinal Dystrophies; 5.6 Discussion; References; 6: Genetics of Cataract in Asia: An Overview of Research in Congenital and Age-Related Cataract with Emphasis on Indian Popula ... ; 6.1 Introduction; 6.2 Epidemiology and Asian Perspective; 6.3 Etiopathogenesis; 6.4 Clinical Features; 6.5 Genetic Aspects; 6.5.1 Age-Related Cataracts; 6.5.2 Congenital Cataract; 6.6 Molecular Biology; 6.7 Summary; References; 7: Genetic Analysis of Families with Retinal Dystrophies; 7.1 Introduction.
• Publisher Details: Tokyo, Japan : Springer
• Publication Date: 2017
• Extent: 1 online resource (xv, 523 pages), illustrations (some color)
• Subjects: 617.7/042; Eye -- Diseases -- Asia -- Genetic aspects; Blindness -- Asia -- Genetic aspects; MEDICAL -- Surgery -- General; Blindness -- Genetic aspects; Eye -- Diseases -- Genetic aspects; Eye Diseases -- genetics; Asia; Asia; Asia; Fulltext; Internet Resources; Electronic book
• Languages: English
• ISBNs: 9784431565116; 4431565116
• Related ISBNs: 9784431565093; 4431565094
• Notes: Note: Includes bibliographical references at the end of each chapters and index.; Note: Online resource; title from PDF title page (SpringerLink, viewed May 3, 2017).
• Access Rights: Legal Deposit; Only available on premises controlled by the deposit library and to one user at any one time; The Legal Deposit Libraries (Non-Print Works) Regulations (UK).
• Access Usage: Restricted: Printing from this resource is governed by The Legal Deposit Libraries (Non-Print Works) Regulations (UK) and UK copyright law currently in force.