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Related Concept Videos

Genomics02:02

Genomics

Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...
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Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
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Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...

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Resolving Complex Structural Variants in Undiagnosed Rare Movement Disorders via Multimodal Genomics and Multi-omics.

Ugo Sorrentino1,2, Melanie Brugger1, Alice Saparov1,2

  • 1Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich, Germany.

Movement Disorders : Official Journal of the Movement Disorder Society
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PubMed
Summary
This summary is machine-generated.

Integrated long-read sequencing and multi-omic analyses successfully identified complex structural variants in rare disease patients. This approach aids in diagnosing neurodegenerative disorders but reveals limitations in current automated pipelines.

Keywords:
complex structural variantsdystonialong‐read sequencingmulti‐omicsnanopore technology

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Area of Science:

  • Genomics
  • Proteomics
  • Transcriptomics
  • Rare Disease Diagnostics

Background:

  • Long-read sequencing and multi-omic frameworks are emerging tools for rare disease diagnosis.
  • Clinical integration of these advanced methodologies is not yet widespread.

Purpose of the Study:

  • To evaluate the capabilities and constraints of combining long-read genomic, transcriptomic, and proteomic data.
  • To characterize complex structural variants using an integrated multi-omic approach.

Main Methods:

  • Nanopore-based long-read DNA sequencing was performed on two patients with dystonia.
  • Patient 1 also underwent complementary transcriptomic and proteomic analyses.

Main Results:

  • Identified two pathogenic complex structural variants: a PANK2-disrupting inversion in patient 1 (neurodegeneration with brain iron accumulation) and a 16p13.3 duplication-triplication in patient 2 (atypical dystonia-parkinsonism).
  • Characterized a homozygous AluY-mediated inversion and a heterozygous de novo duplication-triplication event.

Conclusions:

  • Integrated long-read and multi-omic strategies show diagnostic promise for complex structural variants.
  • Persistent limitations exist in automated pipelines, and genomic, transcriptomic, and proteomic relationships can be unpredictable.