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GenomicsGenome wide association study of leprosy in Chinese population

Leprosy is a chronic infectious disease caused by Mycobacterium leprae (M. leprae). Due to M. leprae's narrow host range and an inability to be cultured in vitro, the biological investigation of this disease has been difficult. Host genetic factors have been ...

phs000217.v1.p1 | EGA
GenomicsGenome-Wide Association Studies in Upper Gastrointestinal Cancers (Asian)

This project aims to conduct genome-wide association studies (GWAS) in two anatomically different upper gastrointestinal (UGI) cancer sites in two populations with distinctly different disease rates and genetic profiles. One population has very high rates for both esophageal squamous cel...

phs000361.v1.p1 | EGA
ProteomicsMorphological change of gill and activation of cell phagocytosis pathway through differential proteomics in Mytilus coruscus under starvation
Mytilus coruscus are one of the dominant shellfish in the Yangtze estuary, but they often face food deprivation due to seasonal fluctuations in algal abundance caused by seasonal freshwater flushing and high-density aquaculture. To investigate the coping strategies of M. coruscus to starvation stres...
ORGANISM(S): Mytilus Coruscus 
2023-03-16 | PXD040908 |
Proteomicsproteomic signature to predict ACT in CRC
High-throughput proteomics profiling-derived signature associated with chemotherapy response and survival for stage II/III colorectal cancer
ORGANISM(S): Homo Sapiens 
PXD043116 |
UnknownThe 1000 Genomes Project: data management and community access.
The 1000 Genomes Project was launched as one of the largest distributed data collection and analysis projects ever undertaken in biology. In addition to the primary scientific goals of creating both a deep catalog of human genetic variation and extensive methods to accurately discover and characteri...
S-EPMC3340611 | biostudies-literature
UnknownMapping copy number variation by population-scale genome sequencing.
Genomic structural variants (SVs) are abundant in humans, differing from other forms of variation in extent, origin and functional impact. Despite progress in SV characterization, the nucleotide resolution architecture of most SVs remains unknown. We constructed a map of unbalanced SVs (that is, cop...
S-EPMC3077050 | biostudies-literature
UnknownA map of human genome variation from population-scale sequencing.
The 1000 Genomes Project aims to provide a deep characterization of human genome sequence variation as a foundation for investigating the relationship between genotype and phenotype. Here we present results of the pilot phase of the project, designed to develop and compare different strategies for g...
S-EPMC3042601 | biostudies-literature
UnknownDemographic history and rare allele sharing among human populations.
High-throughput sequencing technology enables population-level surveys of human genomic variation. Here, we examine the joint allele frequency distributions across continental human populations and present an approach for combining complementary aspects of whole-genome, low-coverage data and targete...
S-EPMC3142009 | biostudies-literature
UnknownDiversity of human copy number variation and multicopy genes.
Copy number variants affect both disease and normal phenotypic variation, but those lying within heavily duplicated, highly identical sequence have been difficult to assay. By analyzing short-read mapping depth for 159 human genomes, we demonstrated accurate estimation of absolute copy number for du...
S-EPMC3020103 | biostudies-literature
UnknownIntegrative annotation of variants from 1092 humans: application to cancer genomics.
Interpreting variants, especially noncoding ones, in the increasing number of personal genomes is challenging. We used patterns of polymorphisms in functionally annotated regions in 1092 humans to identify deleterious variants; then we experimentally validated candidates. We analyzed both coding and...
S-EPMC3947637 | biostudies-literature
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