Article

Combinatorial clinically driven blood biomarker functional genomics significantly enhances genotype-phenotype resolution and diagnostics in neuromuscular disease

2021-01-15

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Purpose</h4> 50-60% of neuromuscular-disease patients remain undiagnosed even after extensive genetic testing that hinders precision-medicine/clinical-trial-enrollment. Importantly, those with DNA-based molecular diagnosis often remain without known molecular mechanism driving different degrees of disease severity that hinders patient stratification and trial-readiness. These are due to: a) c...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 6119596e-ad94-5f03-8a2c-e03b2ad2e09d
DOI: 10.1101/2021.01.14.21249850

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Combinatorial clinically driven blood biomarker functional genomics significantly enhances genotype-phenotype resolution and diagnostics in neuromuscular diseaseDOI 10.1101/2021.01.14.21249850Read

Aggregated genomic data as cohort-specific allelic frequencies can boost variants and genes prioritization in non-solved cases of inherited retinal dystrophiesSemantic proximity Read

Aggregated Genomic Data as Cohort-Specific Allelic Frequencies can Boost Variants and Genes Prioritization in Non-Solved Cases of Inherited Retinal Dystrophies.Semantic proximity Read

Diagnostic yield of multi-gene panel for muscular dystrophies and other hereditary myopathies.Semantic proximity Read

Clinical and Genomic Evaluation of 207 Genetic Myopathies in the Indian SubcontinentSemantic proximity Read

Neuromuscular disease genetics in under-represented populations: increasing data diversitySemantic proximity Read

Translational bioinformatics and machine learning framework for biomarker discovery, disease prediction, and patient profiling for precision medicineSemantic proximity Read

Stratified evaluation of blood RNA sequencing in a rare disease cohortSemantic proximity Read

Next-generation sequencing in drug development: target identification and genetically stratified clinical trials.Semantic proximity Read

RAPID: A Targeted Long-Read RNA Workflow for Functional Resolution of Splicing Variants in Rare DiseaseSemantic proximity Read

Genotype-phenotype correlation--promiscuity in the era of next-generation sequencing.Semantic proximity Read

Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystoniaSemantic proximity Read

RNA-seq analysis, targeted long-read sequencing, and in silico prediction to unravel pathogenic intronic events and predict the regulatory mechanisms underlying complex splicing abnormalities in patients with dystrophinopathySemantic proximity Read