Genomic Variability: Germline, Somatic and de novo Variants

JOSEFINA PEREZ MATURO ; MARCELO KAUFFMAN ; VALERIA SALINAS

Genomic variability in book: Genome Plasticity in Health and Disease.

Academic Press

Año: 2020; p. 63 - 70

Genome Plasticity in Health and Disease provides a fully up-to-date overview on genome plasticity and its role in human physiology and disease. Following an introduction to the field, a diverse range of chapters cover genomic and epigenomic analysis and the use of model organisms and genomic databases in studies. Specific molecular and biochemical mechanisms of genome plasticity are examined, including somatic variants, De Novo variants, founder variations, isolated populations dynamics, copy-number variations, mobile elements, DNA methylation, histone modifications, transcription factors, non-coding RNAs, telomere dynamics and RNA editing.Later chapters explore disease relevance for cancer, as well as cardiovascular, neuropsychiatric, inflammatory, and endocrine disease, and associated pathways for drug discovery.