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

in 13.77 milliseconds.

• 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

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

  Study EGAS00001006332

• Submission 13 - study_title 1

  Submission 13 - description 1

  Study EGAS50000000078

• Study createine_5

  Description createine_5

  Study EGAS50000000125

• Multi-region sequencing of PDAC patients

  Study EGAS00001007379

• Detection of somatic mutations of angioimmunoblastic T-cell lymphoma

  Study EGAS00001007333

• 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

• Study 08

  Study 08 desc

  Study EGAS50000000127

• Study-25-07-2023

  Test study

  Study EGAS50000000124

• Submission 157 - study_title 2

  Submission 157 - description 2

  Study EGAS50000000250

• Submission 40 - study_title 1

  Submission 40 - description 1

  Study EGAS50000000055

• Submission 40 - study_title 2

  Submission 40 - description 2

  Study EGAS50000000056

• Mechanism of action and resistance to Trastuzumab Deruxtecan in patients with metastatic breast cancer

  Study EGAS00001007372

• Submission 5 - study_title 2

  Submission 5 - description 2

  Study EGAS50000000285

• UK10K_OBESITY_SCOOP

  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.The SCOOP samples are part of the Obesity group and will undergo exome sequencing. Severe Childhood Onset Obesity Project (SCOOP) is a sub-cohort of the Genetics Of Obesity Study (GOOS) cohort established by Sadaf Farooqi and Steve O’Rahilly at the University of Cambridge over the last 12 years. The GOOS cohort contains >4,000 patients of diverse geographic origin, many of whom have monogenic and syndromic forms of obesity, and includes patients that are offspring of consanguineous union. SCOOP is a subset of >1500 UK Caucasian patients with severe, early onset obesity (all patients have a BMI Standard Deviation Score (SDS) > 3 and obesity onset before the age of 10 years), in whom all known monogenic causes of obesity have been excluded. GWAS data on the SCOOP cohort will be available (WTCCC2 independent study) at the time of the start of this study. Data from this cohort has demonstrated that the prevalence of the common obesity risk alleles in FTO, MC4R and NEGR1 are amongst the highest within SCOOP, demonstrating its value also in the study of genetic variants with an impact on more common obesity. For further information with regard to this cohort please contact Sadaf Farooqi (isf20@medschl.cam.ac.uk).

  Study EGAS00001000124

• Circulating tumor cells for comprehensive and multiregional non-invasive genetic characterization of multiple myeloma

  Study EGAS00001004288

• Submission 153 - study_title 1

  Submission 153 - description 1

  Study EGAS50000000240

• Submission 201 - study_title 2

  Submission 201 - description 2

  Study EGAS50000000311

• Submission 201 - study_title 1

  Submission 201 - description 1 updated

  Study EGAS50000000310

• Submission 64 - study_title 1

  Submission 64 - description 1

  Study EGAS50000000084

• Submission 158 - study_title 2

  Submission 158 - description 2

  Study EGAS50000000254

• Submission 17 - study_title 1

  Submission 17 - description 1

  Study EGAS50000000363

• Targeted Sequencing Xenturion

  Study EGAS00001006697

• Submission 71 - study_title 2

  Submission 71 - description 2

  Study EGAS50000000106