Results 131 to 140 of about 79,064 (227)

Protocol for detecting germline copy number variants from whole-exome sequencing using agent-assisted Snakemake workflows. [PDF]

STAR Protoc
Chen X.
europepmc   +1 more source

Data‐Independent Acquisition Mass Spectrometry in Tumor Classification and Cancer Biomarker Research

Mass Spectrometry Reviews, EarlyView.
Abstract Cancer treatment is far from optimal also because current classification systems do not reflect the complex molecular status of the tumor and its phenotype in sufficient detail. To construct molecular tumor classifiers, omics tools provide complex molecular data reflecting many aspects from genotype to phenotype.
Jan Simonik, Petr Lapcik, Pavla Bouchalova, Pavel Bouchal   +3 more
wiley   +1 more source

A Practical Workflow for Correcting Kit-Specific Effects in Whole-Exome Sequencing Data. [PDF]

Methods Protoc
Jarosz L, Ochocki M, Merta J, Pusztai L, Marczyk M.   +4 more
europepmc   +1 more source

Data‐Driven Insights into Hyperkinetic Disorders in Neurodevelopmental Syndromes and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Childhood‐onset hyperkinetic movement disorders occur in a range of genetic conditions. Recently, there has been an increase in recognition of hyperkinetic movement disorders, mainly dystonia, chorea and dyskinesia, with monogenic conditions associated with neurodevelopmental delay (NDD) and also with developmental and epileptic ...
Hugo Morales‐Briceño, Shekeeb S. Mohammad, Rajeshwar Reddy Angiti, Velda Han, Michel Tchan, Russell C. Dale, Victor S.C. Fung   +6 more
wiley   +1 more source

Analysis of Whole Exome Sequencing Results of Type 2 Diabetic Pedigree. [PDF]

Mol Genet Genomic Med
Chen J, Li JL, Yin HJ, Guo WC, Li HF.
europepmc   +1 more source

From Uncertainty to Pathogenicity: Resolving a CSF1R Variant of Uncertain Significance Using Long‐Read Transcriptomics

Movement Disorders, EarlyView.
Abstract Background CSF1R‐related disorder (CSF1R‐RD) is a severe autosomal dominant leukoencephalopathy characterized by progressive cognitive, neuropsychiatric, and motor decline. Although genetic testing is widely available, numerous likely pathogenic variants in CSF1R frequently remain classified as variants of uncertain significance (VUS ...
Charles Wade, Kylie Montgomery, Gabriela E. Jones, Peter Sellars, Akram A. Hosseini, Simon Paine, Henry Houlden, Mina Ryten, David S. Lynch   +8 more
wiley   +1 more source

One million exomes identify FNIP1 as a metabolic brake. [PDF]

Trends Genet
Enzan N, Koyama S.
europepmc   +1 more source

Resolving Complex Structural Variants in Undiagnosed Rare Movement Disorders via Multimodal Genomics and Multi‐omics

Movement Disorders, EarlyView.
Abstract Background Long‐read sequencing and multi‐omic analytical frameworks are increasingly being adopted in rare disease diagnostics. However, clinical workflows comprehensively integrating these methodologies remain uncommon. Objective This study aimed to assess the potential and limitations of integrating long‐read genomic, transcriptomic, and ...
Ugo Sorrentino, Melanie Brugger, Alice Saparov, Ivana Dzinovic, Philip Harrer, Sandy Lösecke, Kevork Derderian, Martin Pavlov, Robert Kopajtich, Holger Prokisch, Arcangela Iuso, Maria Mazurkiewicz‐Bełdzińska, Deike Weiss, Christina Ludwig, Miriam Abele, Julia Mergner, Juliane Winkelmann, Theresa Brunet, Michał Schinwelski, Elisabeth Graf, Katja Kloth‐Stachnau, Theresia Herget, Magdalena Krygier, Michael Zech   +23 more
wiley   +1 more source

Multi-Locus Molecular Findings in Pediatric-Onset Inherited Metabolic Disorders: An Eight-Year Series of Outsourced Genomic Testing in Taiwan. [PDF]

Diagnostics (Basel)
Lee CL, Chang YH, Chuang CK, Chiu HC, Tu YR, Lo YT, Wu JY, Huang HY, Lin HY, Lin SP.   +9 more
europepmc   +1 more source

Identification of two pathogenic guanidinoacetate methyltransferase variants in patients with intellectual disability: clinical and molecular insights. [PDF]

Mol Genet Metab Rep
Hashemi SR, Nejatizadeh A, Sheikhha MH, Moayedi AR, Daneshipour A, Firoozabadi SR, Mohammadi SA, Kalantar SM.   +7 more
europepmc   +1 more source