Favoritter
    Log ind Opret dig
    Studiebog
    Genomics of Rare Diseases

    Genomics of Rare Diseases

    - Understanding Disease Genetics Using Genomic Approaches

    Forfatter: info mangler
    Bog
    • Format
    • Bog, paperback
    • Engelsk

    Beskrivelse

    Genomics of Rare Diseases: Understanding Disease Genetics Using Genomic Approaches, a new volume in the Translational and Applied Genomics series, offers readers a broad understanding of current knowledge on rare diseases through a genomics lens. This clear understanding of the latest molecular and genomic technologies used to elucidate the molecular causes of more than 5,000 genetic disorders brings readers closer to unraveling many more that remain undefined and undiscovered. The challenges associated with performing rare disease research are also discussed, as well as the opportunities that the study of these disorders provides for improving our understanding of disease architecture and pathophysiology. Leading chapter authors in the field discuss approaches such as karyotyping and genomic sequencing for the better diagnosis and treatment of conditions including recessive diseases, dominant and X-linked disorders, de novo mutations, sporadic disorders and mosaicism.

    Læs hele beskrivelsen
    Detaljer
    Størrelse og vægt
  • Vægt570 g
    • coffee cup img
    10 cm
    book img
    19,1 cm
    23,5 cm

    Findes i disse kategorier...

    Se andre, der handler om...

    Mosaic Mutation Genetics Genomics Rare diseases Mitochondria Consanguinity Mosaicism Electronic Health Records Aneuploidy Genetic Drift Genome-Wide Association Study Precision Medicine Chromosome Karyotype Somatic Translocation Wes RNA sequencing Statistical genetics EHR Wgs GWAS Inversion Linkage analysis RNA-Seq Transcriptomics Heteroplasmy Mendelian genetics Molecular Profiling NGS Genomic disorders Mitochondrial genome Exome Skewing Association analysis Autosomal Dominant Inheritance Autosomal recessive inheritance Clinical cytogenetics Clan Genomics Complex inheritance Dominant Negative Carrier Frequency Duplication deletion chromosomal abnormality Founder effect Founder population Gene Genomic representation haploinsufficiency Incomplete penetrance De novo mutation Digenic inheritance Multiple molecular diagnoses Mitochondrial disorder Mutational burden Genomic sequencing Homoplasmy Genomic rearrangements Recessive disorders Uniparental disomy Molecular therapy development X-linked inheritance Mutation rate Sporadic disorder Phasing Precision Health X-linked disorder Structural variation Variable expressivity

    Velkommen til Saxo – din danske boghandel

    Hos os kan du handle som gæst, Saxo-bruger eller Saxo-medlem – du bestemmer selv. Skulle du få brug for hjælp, sidder vores kundeservice-team klar ved både telefonerne og tasterne.

    Om medlemspriser hos Saxo

    For at købe bøger til medlemspris skal du være medlem af Saxo Premium, Saxo Shopping eller Saxo Ung. De første 7 dage er gratis for nye medlemmer. Medlemskabet fornyes automatisk og kan altid opsiges. Læs mere om fordelene ved vores forskellige medlemskaber her.

    Machine Name: SAXO081