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Discordant_Monozygotic_Twins_ALS(Genetics)

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease. Regarding genetic factors, pathogenetic mutations in more than 35 genes have been identified as playing a role in disease pathogenesis. However, a substantial portion of ALS heritability remains unaccounted for, pointing to the potential involvement of additional genetic and epigenetic factors. For this reason, we conducted a multi-omics study on a monozygotic twin pair discordant for amyotrophic lateral sclerosis, performing whole exome sequencing, transcriptomic and epigenetic analyses to gain crucial insights into underlying pathogenetic disease mechanisms. Here, we share genetic data.

Type: Exome Sequencing
Archiver: European Genome-phenome Archive (EGA)

1 Dataset 1 Publication

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID	Description	Technology	Samples
EGAD50000001329	We performed whole exome sequencing of a monozygotic twin pair discordant for ALS. This dataset contains two VCF files: one of the healthy twin and one of the ALS twin. Library was prepared according to Agilent SureSelectQXT Kit protocol and processed using Illumina NextSeq 550 sequencer). Fastq files were aligned on the reference human genome hg19 (GRCh37) and, for each patient, a list of variations in a VCF format file (Variant Call Format) was produced by GATK software and annotated by wAnnovar.	NextSeq 550	2

Publications	Citations
A multi-omics study on monozygotic twins discordant for amyotrophic lateral sclerosis and literature review underline a potential role for innate immunity and epigenetic dysregulation in disease mechanisms. Tosi M, Favero F, Zuccalà M, Visha E, Caushi F, Barizzone N, Pomella N, Follia L, Corrado L, Corà D, Martignetti L, Leone M, D'Alfonso S. Neurol Sci 47: 2026 230	0