Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Approximately half of patients with hereditary myopathies remain without a definitive genetic diagnosis after DNA next‐generation sequencing (NGS). Here, we implemented transcriptome analysis of muscle biopsies as a complementary diagnostic tool for patients with muscle disease but no definitive genetic diagnosis after exome ...
Alba Segarra‐Casas +24 more
wiley +1 more source
Data on genome annotation and analysis of earthworm Eisenia fetida
Data in Brief, 2018 The present article reports the complete draft genome annotation of earthworm Eisenia fetida, obtained from the manuscript entitled “Timing and Scope of Genomic Expansion within Annelida: Evidence from Homeoboxes in the Genome of the Earthworm E. fetida”
Sayan Paul +5 more
doaj
Genome annotation: From human genetics to biodiversity genomics. [PDF]
Cell Genom, 2023 Guigó R.
europepmc +1 more source
Numerous Novel Annotations of the Human Genome Sequence Supported by a 5′-End–Enriched cDNA Collection [PDF]
, 2004 Betina M. Porcel +13 more
openalex +1 more source
Pathway Analyses of Inherited Neuropathies Identify Putative Common Mechanisms of Axon Degeneration
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Inherited neuropathies (IN) are associated with over 100 different genetic mutations presenting with a variety of phenotypes. This complexity suggests multiple pathways may converge onto a limited number of downstream pathways to effect axonal injury.
Christopher R. Cashman +2 more
wiley +1 more source
The FunCat, a functional annotation scheme for systematic classification of proteins from whole genomes [PDF]
, 2004 Andreas Ruepp
openalex +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To provide a comprehensive clinical and genetic characterization of individuals with arthrogryposis multiplex congenita (AMC), focusing on the distribution of genetic etiologies across the neuromuscular spectrum and comparing myogenic and neurogenic subtypes. Methods A total of 105 individuals with AMC were clinically and genetically
Florencia Pérez‐Vidarte +13 more
wiley +1 more source
Whole-genome annotation by using evidence integration in functional-linkage networks [PDF]
, 2004 Ulaş Karaöz +6 more
openalex +1 more source
Genetic Diversity and Expanded Phenotypes in Dystonia: Insights From Large‐Scale Exome Sequencing
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Dystonia is one of the most prevalent movement disorders, characterized by significant clinical and etiological heterogeneity. Despite considerable heritability (~25%), the etiology in most patients remains elusive. Moreover, understanding correlations between clinical manifestations and genetic variants has become increasingly ...
Mirja Thomsen +47 more
wiley +1 more source
GOtcha: a new method for prediction of protein function assessed by the annotation of seven genomes [PDF]
, 2004 David MA Martin +2 more
openalex +1 more source