RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu +21 more
wiley +1 more source
Characterizing the mouse ES cell transcriptome with Illumina sequencing
Genomics, 2008 Large datasets generated by Illumina sequencing are ideally suited to transcriptome characterization. We generated 3,052,501 27-mer reads from F1 mouse embryonic stem (ES) cell cDNA. Using the ELAND alignment tool, 74.5% of reads matched sequenced mouse resources,
Rosenkranz, R. +3 more
openaire +3 more sources
Summary of the sequence assembly after Illumina sequencing. [PDF]
, 2013 Summary of the sequence assembly after Illumina sequencing.
Jialin Chen (451414) +6 more
core +1 more source
Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni +19 more
wiley +1 more source
Summary of the sequence assembly after Illumina sequencing. [PDF]
, 2015 Summary of the sequence assembly after Illumina sequencing.
Atsushi Fukushima (86276) +7 more
core +1 more source
Uncovering G Protein‐Coupled Receptors: Novel Targets and Biomarkers for Predicting Glioma Prognosis
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Low‐grade gliomas (LGG) exhibit significant heterogeneity and recurrence risk. G protein‐coupled receptors (GPCR) contribute to glioma malignant progression, but their prognostic value remains unclear. This work attempts to formulate a GPCR‐based outcome‐predicting model for LGG. Methods Based on TCGA LGG data, the enrichment scores
Jun Yang +4 more
wiley +1 more source
Enterococcus faecium ATCC_8459 PacBio/Illumina Sequencing Project [PDF]
, 2013 Enterococcus faecium ATCC_8459 PacBio/Illumina Sequencing, Hybrid Assembly and Comparative Analysis ...
Broad Institute (17855168)
core
Statistics of Illumina sequencing quality for each sample. [PDF]
, 2019 Statistics of Illumina sequencing quality for each sample.
Su-Ming Guo (7027127) +4 more
core +1 more source
Evaluating metagenomics and targeted approaches for diagnosis and surveillance of viruses
Genome MedicineBackground Metagenomics is a powerful approach for the detection of unknown and novel pathogens. Workflows based on Illumina short-read sequencing are becoming established in diagnostic laboratories.
Sarah Buddle +20 more
doaj +1 more source
Prominent Movement Disorders in RNU2‐2‐Related Spliceosomopathy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Pediatric movement disorders often overlap with neurodevelopmental diseases, suggesting shared molecular mechanisms. Variants in small nuclear RNA (snRNA) genes encoding spliceosome components have recently been associated with neurodevelopmental disorders, termed “RNUopathies.” We analyzed genome sequencing data from 14 patients with ...
Magdalena Krygier +6 more
wiley +1 more source