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Genomicsena-DATASET-IGMM-28-09-2016-11:49:17:763-561 - samples
Exome sequencing of isolate populations and Generation Scotland
EGAD00001002715 | EGA
GenomicsHomozygous loss-of-function variants in European cosmopolitan and isolate populations
Homozygous loss of function (HLOF) variants provide a valuable window on gene function in humans, as well as an inventory of the human genes that are not essential for survival and reproduction. All humans carry at least a few HLOF variants, but the exact number of inactivated genes that can be tole...
EGAS00001001606 | EGA
GenomicsQTL-DAC
Data Access Committee EGAC00001000063
EGAC00001000063 | EGA
ProteomicsMonitoring Biomarker Study in Becker Muscular Dystrophy using Data Independent Acquisition LC-MS/MS
Becker muscular dystrophy (BMD) is a rare and heterogenous form of dystrophinopathy caused by reduced expression of altered dystrophin protein. Gene therapies and exon-skipping therapies for the more severe form of dystrophinopathy, Duchenne muscular dystrophy (DMD), assume that disease progression ...
ORGANISM(S): Homo Sapiens 
2025-10-31 | PXD054253 | panorama
ProteomicsOrthogonal proteomics methods warrants development of Duchenne Muscular Dystrophy biomarkers
Background: Molecular components in blood, such as proteins, are used as biomarkers to detect or predict disease states, guide clinical interventions and aid in the development of therapies. While multiplexing proteomics methods promote discovery of such biomarkers, their translation to clinical use...
ORGANISM(S): Homo Sapiens 
2023-06-13 | PXD038089 | panorama
GenomicsNational Cancer Institute Genome-Wide Association Study of Renal Cell Carcinoma

The National Cancer Institute (NCI) genome-wide association study (GWAS) of renal cell carcinoma (RCC) was conducted to investigate common genetic variants associated with RCC risk. The GWAS includes 1,453 RCC cases and 3,531 controls of European background from 4 studies (3 cohort, 1 case-con...

phs000351.v1.p1 | EGA
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