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

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• Whole-exome study to identify the causative germline mutations of congenital macrothrombocytopenia

  Study EGAS00001000371

• Mutational analysis reveals the origin and therapy-driven evolution of recurrent glioma

  Tumor recurrence is a leading cause of cancer mortality. Therapies for recurrent disease may fail, at least in part, because the genomic alterations driving the growth of recurrences are distinct from those in the initial tumor. To explore this hypothesis, we sequenced the exomes of 23 initial low-grade gliomas and recurrent tumors resected from the same patients. In 43% of cases, at least half of the mutations in the initial tumor were undetected at recurrence, including driver mutations inTP53, ATRX, SMARCA4, and BRAF; this suggests that recurrent tumors are often seeded by cells derived from the initial tumor at a very early stage of their evolution. Notably, tumors from 6 of 10 patients treated with the chemotherapeutic drug temozolomide (TMZ) followed an alternative evolutionary path to high-grade glioma. At recurrence, these tumors were hypermutated and harbored driver mutations in the RB (retinoblastoma) and Akt-mTOR (mammalian target of rapamycin) pathways that bore the signature of TMZ-induced mutagenesis.

  Study EGAS00001000579

• Targeted Sequencing Xenturion

  Study EGAS00001006697

• Submission 15 - study_title 2

  Submission 15 - description 2

  Study EGAS50000000083

• Characterization of a novel MEF2D-BCL9 fusion positive acute lymphoblastic leukemia cell line WXS

  Study EGAS00001006800

• Submission 13 - study_title 1

  Submission 13 - description 1

  Study EGAS50000000078

• TRACERx NSCLC - Whole exome multiregion sequencing data

  Study EGAS00001006494

• Germline variants in childhood cutaneous melanoma

  Study EGAS00001006995

• UK10K_RARE_HYPERCHOL

  In the UK10K project we propose a series of complementary genetic approaches to find new low frequency/rare variants contributing to disease phenotypes. These will be based on obtaining the genome wide sequence of 4000 samples from the TwinsUK and ALSPAC cohorts (at 6x sequence coverage), and the exome sequence (protein coding regions and related conserved sequence) of 6000 samples selected for extreme phenotypes. Our studies will focus primarily on cardiovascular-related quantitative traits, obesity and related metabolic traits, neurodevelopmental disorders and a limited number of extreme clinical phenotypes that will provide proof-of-concept for future familial trait sequencing. We will analyse directly quantitative traits in the cohorts and the selected traits in the extreme samples, and also use imputation down to 0.1% allele frequency to extend the analyses to further sample sets with genome wide genotype data. In each case we will investigate indels and larger structural variants as well as SNPs, and use statistical methods that combine rare variants in a locus or pathway as well as single-variant approaches.Familial Hypercholesterolemia is a condition where the affected person has a consistently high level of LDL which can lead to early clogging of the coronary arteries. All patients selected for this study will have been found not to carry the common APOB and PCSK9 mutations, and to have no detectable LDLR mutations by testing for 18 common mutations. For further information with regard to this cohort please contact Steve Humphries(steve.humphries@ucl.ac.uk).

  Study EGAS00001000129

• Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

  Study EGAS00001000287

• Pancreatic Cancer Sequencing Initiative

  Pancreatic Cancer Sequencing Initiative for the International Cancer Genome Consortium at the Ontario Institute for Cancer Research.

  Study EGAS00001000343

• Germline Aberrations of PAX5 Cause Susceptibility to pre-B cell Acute Lymphoblastic Leukemia

  Study EGAS00001000447

• Whole-exome sequencing of NTHL1 deficient tumors

  Study EGAS00001003400

• Study createine_5

  Description createine_5

  Study EGAS50000000125

• Submission 135 - study_title 2

  Submission 135 - description 1

  Study EGAS50000000225

• Submission 157 - study_title 2

  Submission 157 - description 2

  Study EGAS50000000250

• JEM 20211004R

  Study EGAS00001005764

• Two monogenic disorders masquerading as one: Severe congenital neutropenia with monocytosis and non-syndromic sensorineural hearing loss

  Study EGAS00001004176

• Submission 201 - study_title 2

  Submission 201 - description 2

  Study EGAS50000000311

• Submission 40 - study_title 1

  Submission 40 - description 1

  Study EGAS50000000055

• Submission 40 - study_title 2

  Submission 40 - description 2

  Study EGAS50000000056

• Submission 64 - study_title 1

  Submission 64 - description 1

  Study EGAS50000000084

• Submission 71 - study_title 2

  Submission 71 - description 2

  Study EGAS50000000106

• Whole Exome sequencing data from Shwachman-Diamond syndrome bone marrow samples

  Study EGAS00001004880

• Whole exome sequencing from small cell lung cancer patients

  Study EGAS00001005087

• Novel de novo pathogenic variant in the GNAI1 as a cause of severe disorders of intellectual development with autistic features

  Study EGAS00001005346

• The Xq22.3 contiguous gene deletion syndrome (ATS-ID)

  Study EGAS00001005354

• Retinal Dystrophy_analysis

  Study EGAS00001005369

• 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