Progress in genomic medicine : from research to clinical application /

Detalles Bibliográficos
Clasificación:Libro Electrónico
Autor principal: Smith, Moyra (Autor)
Formato: Electrónico eBook
Idioma:Inglés
Publicado: London, United Kingdom : Academic Press, [2022]
Temas:
Medical genetics.
Genomics.
Genetics, Medical
Genomics
G�en�etique m�edicale.
G�enomique.
Medical genetics
Acceso en línea:Texto completo
Tabla de Contenidos:
  • 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
  • 5.10.1 Chromatin conformation capture
  • 5.11 Methylation analyses
  • 5.12 Imprinted genomic regions
  • 5.13 Genetic disorders where analysis of methylation is important
  • 5.13.1 Methylation and cancer
  • References
  • II. Clinical Applications of Genomic Medicine
  • 6 Expansion of use of genome analyses and sequencing in diagnosis of genetic diseases
  • 6.1 Measurement toolkit for assessing the clinical utility of whole genome sequencing
  • 6.1.1 Next generation sequencing in clinical neurology
  • 6.2 One phenotype many genes
  • 6.2.1 Incomplete penetrance
  • 6.3 Genome sequencing in pediatric developmental defects
  • 6.4 Optical DNA mapping in human genome studies
  • 6.5 Transcriptome sequencing
  • 6.6 Imprinting
  • 6.7 Imprinting disorders.
  • 6.8 PraderWilli syndrome and Angelman syndrome
  • 6.9 SilverRussell syndrome
  • 6.10 GNAS locus
  • 6.11 Epivariations
  • 6.12 Multilocus imprinting disorders
  • 6.13 Chromosomes genomes and sequence
  • 6.14 Structural genomic variants
  • 6.14.1 Population analyses
  • 6.14.2 Dosage sensitivity and haploinsufficiency
  • 6.14.3 ACMG recommendations regarding genomic copy number variants analysis and reporting
  • 6.15 Assessment of copy number changes in different conditions and at different life stages
  • 6.16 Prenatal exome sequence analysis
  • 6.17 Deciphering Developmental Disorders Study
  • 6.18 Investigations of causes of recurrent miscarriage
  • 6.19 Sequencing in prenatal diagnosis: noninvasive prenatal testing
  • References
  • Further reading
  • 7 Improved analyses of regulatory genome, transcriptome and gene function, mutation penetrance, and clinical applications
  • 7.1 Introduction
  • 7.1.1 Gene expression
  • 7.2 Regulatory genome, gene expression, phenotype, and variability
  • 7.2.1 Long noncoding RNAs (long nonprotein coding RNAs)
  • 7.2.2 Defining functions of specific regulatory elements and their relationship to diseases
  • 7.3 Epigenetic factors relevant to gene expression
  • 7.3.1 Disorders of the epigenetic machinery leading to neurodevelopmental disorders
  • 7.3.2 Cohesinopathies
  • 7.4 Regulatory circuit: Epimap
  • 7.4.1 Combinations of variants in different genes and impact of phenotype
  • 7.5 Genotype phenotype axis
  • 7.6 Promoters
  • 7.7 Transcription initiation and promoters
  • 7.7.1 Genes with more than one promoter
  • 7.7.2 Ornithine transcarbamylase gene promoters and enhancers
  • 7.8 Transcription factors
  • 7.8.1 Transcription elongation and RNA polymerase II
  • 7.9 Transcription termination
  • 7.10 Polyadenylation
  • 7.11 Alternate polyadenylation
  • 7.11.1 Alternate splicing of transcripts
  • 7.12 The spliceosome.
  • 7.12.1 Generation of microexons
  • 7.13 MicroRNAs and posttranscriptional regulation
  • 7.14 Translation, ribosomes biogenesis, functions, and defects
  • 7.14.1 Human disorders associated with impaired ribosomal biogenesis or function
  • 7.15 Translation of mRNA to proteins and associated defects leading to disease
  • 7.15.1 Aminoacyl tRNA synthases
  • 7.15.2 Noncanonical functions of aminoacyl tRNA synthetases
  • 7.16 tRNAs
  • 7.17 RNA surveillance
  • 7.17.1 Posttranscriptional control and RNA binding proteins
  • 7.17.2 RNA modifications and regulation of gene expression
  • 7.18 Translation
  • 7.19 Nonsense-mediated decay
  • 7.19.1 Suppression of nonsense mutations
  • 7.20 Nonsense mutations and human disease
  • 7.21 Approved RNA targeted therapeutics
  • 7.22 Therapy with short inhibitory RNAs
  • 7.23 MicroRNAs in therapeutic use
  • 7.24 RNA sequencing in diagnosis of genetic diseases
  • 7.25 Penetrance of mutations and modified penetrance
  • 7.26 Variable penetrance of disease due to polymorphisms in regulatory factors
  • 7.27 Penetrance in inherited eye diseases
  • 7.28 Primary immunodeficiency and incomplete penetrance
  • References
  • 8 Standardized phenotype documentation, documentation of genotype phenotype correlations
  • 8.1 Phenotype and clinical genetics
  • 8.2 Congenital malformations and syndromes
  • 8.2.1 Inborn errors of development
  • 8.2.2 Twin studies and analysis of gene effects on phenotype
  • 8.2.3 Accounting for phenotypic differences in individuals with the same genetic defect
  • 8.3 Variable phenotypes associated with specific mitochondrial mutations
  • 8.4 Variable genomic abnormalities in individuals with the same phenotype
  • 8.5 Standardized phenotype documentation, documentation of genotype phenotype correlations databases
  • 8.5.1 Clinical genetics and genomics databases
  • 8.6 Phenome-wide association studies.
  • 8.7 Dysmorphology syndromes with overlapping features due to defect in gene products that function in a specific pathway
  • 8.7.1 Gene products involved in the RAS/MAP signal transduction pathway and chromosomal map positions
  • 8.8 Phenotypic defects due to defects in sonic hedgehog signaling pathway
  • 8.9 Fibroblast growth factor signaling pathway
  • 8.10 Fibroblast growth factor receptor defects
  • 8.10.1 Mutations reported as pathogenic in achondroplasia multiple submitters
  • 8.11 Transforming growth factor beta signaling pathway
  • 8.11.1 Phenotypic features LoeysDietz syndromes
  • 8.11.2 LDS type 4 TGFB2 mutations
  • 8.11.3 LDS type 5 TGFB3 mutations
  • 8.12 Marfan syndrome 15q21.1 FBN1
  • 8.12.1 FBN1 mutations in Marfan syndrome
  • 8.13 FBN1 mutations, pathogenic, likely pathogenic, Marfan syndrome multiple submitters, without conflicts identified in Cl...
  • 8.14 Connective tissue disorder EhlersDanlos syndrome disorders
  • 8.14.1 COL3A, vascular EDS, pathogenic/likely pathogenic, mutations, multiple submitters, no conflicts
  • 8.14.2 Classic type ` 9q34.3 COL5A AD collagen type V alpha 1 chain
  • 8.14.3 Hypermobile EhlersDanlos syndrome
  • 8.15 DNA methylation episignatures and phenotypic correlations
  • References
  • 9 Expansion of methods of gene editing therapy and analysis of safety and efficacy
  • 9.1 Introduction
  • 9.2 Therapies designed to block nucleotides or RNA derived from a specific gene
  • 9.3 Oligonucleotide therapies
  • 9.3.1 Steric block oligonucleotides
  • 9.3.2 RNA inhibition in therapies
  • 9.3.3 MicroRNAs as mRNA inhibitors
  • 9.3.4 Long noncoding RNAs, small RNAs, endogenous antisense RNAs
  • 9.4 Delivery challenges in oligonucleotide therapies
  • 9.5 Splice mutations and diseases
  • 9.6 Antisense therapies under investigation
  • 9.7 Genomic data leading to therapeutics.

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