97 results for "study_type:"exome sequencing" AND repository:ega"

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• Nuclear DNA mitochondrial Variants in Amyotrophic Lateral Sclerosis_again

  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.

  Study EGAS50000000444

• Nuclear DNA mitochondrial Variants in Amyotrophic Lateral Sclerosis_4

  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.

  Study EGAS50000000457

• 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.

  Study EGAS50000000458

• Nuclear DNA mitochondrial Variants in Amyotrophic Lateral Sclerosis_6

  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

  Study EGAS50000000459

• :Nuclear DNA mitochondrial Variants in Amyotrophic Lateral Sclerosis_6

  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.

  Study EGAS50000000460

• Genomic map of Poland in open access - digitization of biomolecular resources of the Biobank University of Lodz laboratory

  The aim of the project is to create infrastructure for free access to digitized resources. The data comes from the resources of the Biobank WBiOŚ University of Lodz laboratory and concerns human genetics. A fragment of the POPULOUS collection will be digitized - a collection of biological material collected from Polish residents, reflecting the demographic structure of the country. The final products will be digitized full genomes and full exons of Poles from 750 anonymous donors from a group of over 10,000 volunteers.

  Study EGAS50000000154

• Multi-region sequencing of PDAC patients

  Study EGAS00001007379