Article

Integration of proteomics with genomics and transcriptomics increases the diagnostic rate of Mendelian disorders

2021-03-12

Abstract excerpt

By lack of functional evidence, genome-based diagnostic rates cap at approximately 50% across diverse Mendelian diseases. Here, we demonstrate the effectiveness of combining genomics, transcriptomics, and, for the first time, proteomics and phenotypic descriptors, in a systematic diagnostic approach to discover the genetic cause of mitochondrial diseases. On fibroblast cell lines from 145 individuals, tandem mass...

Topics

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

Identifiers and source

Literature Corpus work: 3e16d937-3b30-53ef-a3a6-189368ba6b7d
DOI: 10.1101/2021.03.09.21253187

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Integration of proteomics with genomics and transcriptomics increases the diagnostic rate of Mendelian disordersDOI 10.1101/2021.03.09.21253187Read

Untargeted proteomics enables ultra-rapid variant prioritization in mitochondrial and other rare diseasesSemantic proximity Read

Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseases.Semantic proximity Read

Genetic diagnosis of Mendelian disorders via RNA sequencingSemantic proximity Read

Integrative and systematic genomic approaches to improve diagnosis in rare and undiagnosed diseases: results from the RareBoost projectSemantic proximity Read

Expediting rare disease diagnosis: a call to bridge the gap between clinical and functional genomics.Semantic proximity Read

How to proceed after "negative" exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques.Semantic proximity Read

Genetics of mitochondrial diseases: Identifying mutations to help diagnosis.Semantic proximity Read

A Copernican revolution of multigenic analysis: A retrospective study on clinical exome sequencing in unclear genetic disordersSemantic proximity Read

Translational Diagnostics: An In-House Pipeline to Validate Genetic Variants in Children with Undiagnosed and Rare Diseases.Semantic proximity Read

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

RNA sequencing resolves cryptic pathogenic variants in mitochondrial diseaseSemantic proximity Read

A tailored approach to fusion transcript identification increases diagnosis of rare inherited diseaseSemantic proximity Read