| Description |
1 online resource (398 p.) |
| Contents |
Front Cover -- Progress in Genomic Medicine -- Copyright Page -- Dedication -- Contents -- Preface -- Acknowledgments -- Epigraph -- I. History and Growth of Genetic Medicine -- 1 Documentation of units of inheritance and their contribution to phenotype -- 1.1 Rediscovery of the laws of Mendel -- 1.2 Genes and genetics -- 1.3 Nucleic acids -- 1.4 The structure of DNA -- 1.5 DNA and chromatin -- 1.5.1 Consequences of determination of DNA structure -- 1.5.2 Modifications of DNA sequences -- 1.6 Applications of studies of chromosomes, genomes, genes, and gene expression to clinical medicine |
|
1.6.1 Chromosome microarray analyses -- 1.7 Long-read sequencing for detection of genomic variants including structural chromosome abnormalities -- 1.8 Determination of the significance of structural variants in the genome -- 1.8.1 Clinical significance of structural genomic variants -- 1.9 Mosaicism -- 1.9.1 Chromosomal mosaicism -- 1.9.2 Mosaicism detection -- 1.9.3 Mosaicism and genetic diseases -- 1.10 Germline mutations -- 1.11 Genetic mosaicism in inborn errors of immunity -- References -- Further reading -- 2 Early documentation of inherited disorders through family studies |
|
2.1 The Treasury of Human Inheritance -- 2.2 Ectrodactyly -- 2.3 Deafness -- 2.4 Hemophilia -- 2.5 Achondroplasia -- 2.6 Color blindness -- 2.7 Blue sclerotics and fragility of bone -- 2.8 Hereditary optic atrophy (Leber's disease) -- 2.9 Huntington's chorea -- 2.10 Duchenne muscular dystrophy -- 2.11 Determination of genetic causes of specific diseases and family studies -- References -- Further reading -- 3 Discoveries in physiology, biochemistry, protein, and enzyme studies between 1920 and 1970 -- References -- Further reading |
|
4 Early translation of biochemical, metabolic, and genetic discoveries into clinical medicine -- 4.1 ABO -- 4.2 Further information on the ABO blood group system -- 4.3 Secretor status -- 4.4 Mapping of the ABO locus to a chromosome -- 4.5 Rh blood group system -- 4.6 RHD genotyping -- 4.7 Chemical analyses and metabolism incorporating information gathered across the decades -- References -- Further reading -- 5 Advances in methods of genome analyses, nucleotide analyses, and implications of variants -- 5.1 Introduction -- 5.2 DNA sequencing -- 5.3 Applications of long-read sequencing |
|
5.4 Sequence variant interpretation -- 5.4.1 Sequencing in clinical diagnosis: reinterpretation of data and secondary findings -- 5.4.2 Long-range sequencing relevance to diagnosis of rare disorders -- 5.5 Additional evidence for digenic or complex inheritance -- 5.6 Variants in nonprotein coding genomic regions -- 5.7 Haplotype phasing -- 5.7.1 Noninvasive prenatal screening and haplotype phasing -- 5.8 Haplotype analysis -- 5.9 Long-range sequencing and identification of structural genomic variants leading to disease -- 5.10 Investigations of chromatin structure and genomic function |
| Notes |
Description based upon print version of record |
|
5.10.1 Chromatin conformation capture |
| Form |
Electronic book
|
| ISBN |
9780323915489 |
|
0323915485 |
|
