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

in 21.53 milliseconds.

• A body map of somatic mutagenesis in morphologically normal human tissues (WES)

  Study EGAS00001005459

• PIK3CA mutation in a case of CTNNB1 mutant sinonasal glomangiopericytoma

  Study EGAS00001005653

• Longitudinal single-cell transcriptomics reveals distinct patterns of recurrence in acute myeloid leukemia

  Study EGAS00001005820

• Searching for genetic modulators of the phenotypic heterogeneity in Brugada Syndrome

  Study EGAS00001005848

• TLR7 variants in human lupus patients

  Study EGAS00001005965

• Exome sequencing in CLL re-treated with venetoclax

  Study EGAS00001006158

• Genomics characterization of BRAF-V600E colorectal cancer patients treated with anti-BRAF/EGFR

  Study EGAS00001006247

• Submission 45 - study_title 0

  Submission 45 - description 0

  Study EGAS50000000478

• Submission 25 - study_title 2

  Submission 25 - description 2

  Study EGAS50000000487

• A clinically annotated post-mortem approach to study multi-organ somatic mutational clonality in normal tissues

  Study EGAS00001006332

• test study

  ddd

  Study EGAS50000000466

• Nuclear DNA mitochondrial Variants in Amyotrophic Lateral Sclerosis3

  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 EGAS50000000443

• 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

• Exome-sequencing identifies new oncogenes and tumor suppressor genes recurrently altered in hepatocellular carcinoma

  Hepatocellular carcinoma (HCC) is the most common primary liver malignancy. High-resolution copy number analysis of 125 tumors of which 24 were subjected to whole-exome sequencing identified 135 homozygous deletions and 994 somatic gene mutations with predicted functional consequences. We identified new recurrent alterations in 4 genes (ARID1A, RPS6KA3, NFE2L2 and IRF2) not previously described in HCC. Functional analyses demonstrated tumor suppressor properties for IRF2 whose inactivation, exclusively found in hepatitis B virus related tumors, leads to impaired TP53 function. Alternatively, inactivation of proteins involved in chromatin remodeling was frequent and predominant in alcohol related tumors. Moreover, activation of the oxidative stress metabolism and inactivation of RPS6KA3 were new pathways associated with WNT/beta-catenin activation, thereby suggesting a cooperative effect in tumorigenesis. This study shows the dramatic somatic genetic diversity in HCC, it reveals interactions between oncogene and tumor suppressor gene mutations markedly related to specific risk factors.

  Study EGAS00001000217

• TRACERx NSCLC - Whole exome multiregion sequencing data

  Study EGAS00001006494

• Familial Melanoma Sequencing

  In this experiment we have sequenced the exome of 15 individuals from eight families who have familial melanoma. By sequencing the exome we hope to be able to identify new genes that are associated with this disease.

  Study EGAS00001000017