INTEGRATIVE OMICS IN PARKINSON'S DISEASE.
Integrative Omics in Parkinson's Disease provides a comprehensive understanding of the current literature on high-throughput technologies relating to discoveries for Parkinson's disease etiology.This emerging field uses large omics datasets to investigate the etiology of Parkinson's d...
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| Format: | eBook |
| Language: | English |
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[S.l.] :
Academic Press,
[2025].
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| Online Access: | Connect to the full text of this electronic book |
Table of Contents:
- Future directions and conclusions
- Acknowledgments
- References
- Chapter 5: Methods to investigate somatic structural variants in synucleinopathies
- Introduction
- Combined immunofluorescence-FISH for the detection of somatic SNCA CNVs
- Single-cell whole genome sequencing
- Digital PCR and droplet digital PCR for the detection of low-level SNCA CNVs
- Long-read sequencing: Targeted and genome-wide
- Future directions
- Acknowledgment
- References
- Chapter 6: Mitochondrial genetics in Parkinsons disease
- Abbreviations
- Introduction
- Mitochondria in Parkinsons disease
- The mitochondrial genome-Organization and different forms of variations
- Mitochondrial DNA copy number
- Copy number variations in Parkinsons disease
- Methods to assess mitochondrial copy number
- Optical and biochemical mtDNA-CN estimation
- PCR-based mtDNA-CN estimation
- Microarray-based mtDNA-CN estimation
- Next-generation sequencing-based mtDNA-CN estimation
- Structural variants of the mitochondrial genome
- mtDNA structural variation in PD
- 7S DNA in PD
- mtDNA deletions in PD
- Methods to assess structural variation of mitochondrial genomes
- PCR-based methods
- NGS-based methods
- Long-read sequencing
- Germline variants and mitochondrial haplogroups
- Association of mtDNA single nucleotide variants or haplogroups with PD
- Assessment of mitochondrial germline variants
- Array-based genotyping
- Sequencing
- mtDNA variant annotation and pathogenicity scores
- Mitochondrial heteroplasmy
- Heteroplasmic variant load is related to Parkinsons disease
- Different approaches to assess heteroplasmy
- Understudied mitochondrial DNA variations
- Epigenetics
- Cell-free mitochondrial DNA
- Conclusion
- References
- Chapter 7: DNA methylation studies in Parkinsons disease
- The most studied epigenetic mechanism in complex diseases.
- The new era of transcriptomics: Long-read RNA sequencing
- Applications of long-read sequencing
- Elucidating gene function
- Variant interpretation
- Long-read RNA sequencing can aid in gene therapy design
- Long-read transcriptomics in neurodegenerative disease
- MAPT in Alzheimers disease
- SNCA in Parkinsons disease
- GBA1 and GBAP1 in Parkinsons disease
- TARDBP in amyotrophic lateral sclerosis and frontotemporal dementia
- The future of long-read sequencing in neurotranscriptomics
- Challenges in using long-read RNA sequencing when studying neurodegenerative diseases
- Concluding remarks
- References
- Chapter 11: Gene-environment interactions and behavior
- Historical background
- Metaanalyses and systematic reviews investigating environmental factors and PD risk
- Age at onset in PD
- Models to study gene-environment interactions
- Systematic review of gene-environment interactions in the literature
- Conclusion and outlook
- References
- Chapter 12: Introduction to prediction modeling using machine learning and omics data
- Introduction
- Machine learning approaches for prediction modeling
- Training a prediction model
- Measuring prediction performance
- Validating a prediction model
- Explaining a prediction model
- Further reading
- Acknowledgment
- References
- Chapter 13: Merging iPSCs and ``omics´´: Advances in the field and potential applications to untangle neurodegenerative d ...
- Introduction
- iPSCs and neurons
- Neurodegenerative diseases
- Parkinsons disease
- Alzheimers disease
- Amyotrophic lateral sclerosis
- Disease mechanisms identified in iPSC-based studies using omics
- Merging iPSCs and ``omics´´
- Multiomics approach to untangle neurodegenerative diseases
- Parkinsons disease
- Alzheimers disease
- Amyotrophic lateral sclerosis
- Conclusions and limitations.
- Translational potential and future perspectives
- References
- Index.