Identification of a pathogenic PMP2 variant in a multi-generational family with CMT type 1: Clinical gene panels versus genome-wide approaches to molecular diagnosis.
Sign Up to like & getrecommendations! Published in 2018 at "Molecular genetics and metabolism"
DOI: 10.1016/j.ymgme.2018.08.005
Abstract: Charcot-Marie-Tooth (CMT) disease type 1 is an inherited peripheral neuropathy characterized by demyelination and reduced nerve conduction velocities. We present a multi-generational family with peripheral neuropathy in whom clinical CMT panel testing failed to conclude… read more here.
Keywords: generational family; multi generational; molecular diagnosis; type ... See more keywords
PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels
Sign Up to like & getrecommendations! Published in 2019 at "Nature Genetics"
DOI: 10.1038/s41588-019-0528-2
Abstract: A fundamental problem in rare-disease diagnostics is the lack of consensus as to which genes have sufficient evidence to attribute causation. To address this issue, we have created PanelApp (https://panelapp.genomicsengland.co.uk), a publicly available knowledge base… read more here.
Keywords: crowdsources expert; expert knowledge; panelapp crowdsources; consensus ... See more keywords
Detecting copy number variation in next generation sequencing data from diagnostic gene panels
Sign Up to like & getrecommendations! Published in 2021 at "BMC Medical Genomics"
DOI: 10.1186/s12920-021-01059-x
Abstract: Background Detection of copy number variation (CNV) in genes associated with disease is important in genetic diagnostics, and next generation sequencing (NGS) technology provides data that can be used for CNV detection. However, CNV detection… read more here.
Keywords: copy number; detection; number variation; gene panels ... See more keywords
Tumor mutational burden quantification from targeted gene panels: major advancements and challenges
Sign Up to like & getrecommendations! Published in 2019 at "Journal for Immunotherapy of Cancer"
DOI: 10.1186/s40425-019-0647-4
Abstract: Tumor mutational burden (TMB), the total number of somatic coding mutations in a tumor, is emerging as a promising biomarker for immunotherapy response in cancer patients. TMB can be quantitated by a number of NGS-based… read more here.
Keywords: quantification; based tmb; panel based; gene panels ... See more keywords
Direct comparison of circulating tumor DNA sequencing assays with targeted large gene panels
Sign Up to like & getrecommendations! Published in 2022 at "PLoS ONE"
DOI: 10.1371/journal.pone.0266889
Abstract: Next generation sequencing (NGS) assays with large targeted gene panels can comprehensively profile cancer somatic mutations in a tumor sample. Given the rapid adoption of such assays for circulating tumor DNA (ctDNA) analysis in clinical… read more here.
Keywords: circulating tumor; tumor dna; dna; gene panels ... See more keywords
Exome sequencing and targeted gene panels: a simulated comparison of diagnostic yield using data from 158 patients with rare diseases
Sign Up to like & getrecommendations! Published in 2021 at "Genetics and Molecular Biology"
DOI: 10.1590/1678-4685-gmb-2021-0061
Abstract: Abstract Next-generation sequencing (NGS) has altered clinical genetic testing by widening the access to molecular diagnosis of genetically determined rare diseases. However, physicians may face difficulties selecting the best diagnostic approach. Our goal is to… read more here.
Keywords: targeted gene; gene; using data; patients rare ... See more keywords
Allelic Dropout Is a Common Phenomenon That Reduces the Diagnostic Yield of PCR-Based Sequencing of Targeted Gene Panels
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2021.620337
Abstract: Primary cardiomyopathies (CMPs) are monogenic but multi-allelic disorders with dozens of genes involved in pathogenesis. The implementation of next-generation sequencing (NGS) approaches has resulted in more time- and cost-efficient DNA diagnostics of cardiomyopathies. However, the… read more here.
Keywords: gene panels; allelic dropout; diagnostic yield; targeted gene ... See more keywords
Review of Recurrently Mutated Genes in Craniosynostosis Supports Expansion of Diagnostic Gene Panels
Sign Up to like & getrecommendations! Published in 2023 at "Genes"
DOI: 10.3390/genes14030615
Abstract: Craniosynostosis, the premature fusion of the cranial sutures, affects ~1 in 2000 children. Although many patients with a genetically determined cause harbor a variant in one of just seven genes or have a chromosomal abnormality,… read more here.
Keywords: recurrently mutated; craniosynostosis; gene panels; review recurrently ... See more keywords
Assessment of Two Commercial Comprehensive Gene Panels for Personalized Cancer Treatment
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Personalized Medicine"
DOI: 10.3390/jpm13010042
Abstract: (1) Background: Analysis of tumor DNA by next-generation sequencing (NGS) plays various roles in the classification and management of cancer. This study aimed to assess the performance of two similar and large, comprehensive gene panels… read more here.
Keywords: comprehensive gene; gene panels; personalized cancer; cancer treatment ... See more keywords