Nuclear DNA mitochondrial Variants in Amyotrophic Lateral Sclerosis_5

Amyotrophic Lateral Sclerosis (ALS) is a progressive disease with prevalent mitochondrial dysfunctions affecting both upper and lower motor neurons in the motor cortex, brainstem, and spinal cord. Our study aimed to simultaneously screen for variants within nDNA encoded mitochondrial genes and mtDNA genomes to assess for specific variant enrichment in ALS compared to control tissues.

Type: Exome Sequencing
Archiver: Federated European Genome-Phenome Archive (FEGA Italy)

2 Datasets

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Dataset ID	Description	Technology	Samples
EGAD50000000461	Standard variant calling was performed with GATK on nuclear-encoded mitochondrial genes retrieved from the MitoCarta3.0 human inventory (https://www.broadinstitute.org/mitocarta/mitocarta also variants within 10 kbp upstream and downstream of nuclear-encoded mitochondrial genes were included in our analyses . checksum was performed on three files: fastq files bam vcf	Illumina HiSeq 2000	1
EGAD50000000462	Standard variant calling was performed with GATK on nuclear-encoded mitochondrial genes retrieved from the MitoCarta3.0 human inventory (https://www.broadinstitute.org/mitocarta/mitocarta also variants within 10 kbp upstream and downstream of nuclear-encoded mitochondrial genes were included in our analyses . checksum was performed on three files: fastq files bam vcf	Illumina HiSeq 2000	1