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

in 19.45 milliseconds.

• 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

• 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