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Series GSE242472 Query DataSets for GSE242472
Status Public on Dec 31, 2023
Title DNA methylome, R-loop and clinical exome profile of patients with sporadic Amyotrophic Lateral Sclerosis (CES)
Organism Homo sapiens
Experiment type Other
Summary Amyotrophic Lateral Sclerosis (ALS) is a fatal neurodegenerative disorder characterised by the death of motor neurons, the aetiology of which is essentially unknown. Here, we present an integrative epigenomic study in blood samples from seven clinically characterised sporadic ALS patients to elucidate molecular factors associated with the disease. We used clinical exome sequencing (CES) to study DNA variants, DNA-RNA hybrid immunoprecipitation sequencing (DRIP-seq) to assess R-loop distribution, and reduced representation bisulfite sequencing (RRBS) to examine DNA methylation changes. The above datasets were combined to create a comprehensive repository of genetic and epigenetic changes associated with the ALS cases studied. Our data descriptor is expected to guide further mechanistic studies on ALS to discover underlying genetic causes and develop new epigenetic therapies to combat this life-threatening disease.
Overall design To investigate the DNA variants in relation to ALS, we performed CES (clinical exome sequencing) experiment on blood samples from 7 patients diagnosed with ALS (that had no other disease).
Contributor(s) Feró O, Varga D, Nagy É, Karányi Z, Sipos É, Engelhardt J, Török N, Balogh I, Vető B, Likó I, Fóthi Á, Szabó Z, Halmos G, Vécsei L, Arányi T, Székvölgyi L
Citation(s) 38267456
Submission date Sep 06, 2023
Last update date Feb 09, 2024
Contact name Lorant Szekvolgyi
Organization name University of Debrecen
Department Department of Pharmacy
Lab Genome Architecture and Recombination Research Group
Street address Egyetem ter 1.
City Debrecen
ZIP/Postal code 4032
Country Hungary
Platforms (1)
GPL15520 Illumina MiSeq (Homo sapiens)
Samples (7)
GSM7764370 CES, ALS, ALS61
GSM7764371 CES, ALS, ALS62
GSM7764372 CES, ALS, ALS69
This SubSeries is part of SuperSeries:
GSE242475 DNA methylome, R-loop and clinical exome profiling of patients with sporadic Amyotrophic Lateral Sclerosis
BioProject PRJNA1013545

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Supplementary file Size Download File type/resource
GSE242472_ALS_CES_variant_list.tsv.gz 14.8 Mb (ftp)(http) TSV
GSE242472_RAW.tar 27.3 Mb (http)(custom) TAR (of VCF)
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Raw data are available in SRA
Processed data provided as supplementary file

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