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GenomicsThis committee is composed on individuals who have access to the data corresponding to this project: Gut microbiome modulates response to anti PD-1 immunotherapy in melanoma patients
Data Access Committee EGAC00001000758
EGAC00001000758 | EGA
ProteomicsNCKAP1L defects lead to primary immunodeficincy and lymphoproliferation within a Hemophagocytic Lymphohistiocytosis-like syndrome
The Nck-Associated Protein 1-Like NCKAP1L gene, alternatively called Hematopoietic protein 1 (HEM-1), encodes a hematopoietic-specific regulator of the actin cytoskeleton, part of the WAVE2 complex. NCKAP1L is involved in lymphocyte development, phagocytosis and neutrophils migration. Here we report...
ORGANISM(S): Homo sapiens (Human) 
2020-07-31 | PXD016191 | Pride
Shotgun proteomics Rnaseq Nckap1l-deficiency Hemophagocytic lymphohistiocytosis-like syndrome Immunophenotying 
GenomicsSubclonalHeterogeneity_regions_MuTect-Battenberg_CNVs - samples
CNA calls generated using the MuTect-Battenberg-PhyloWGS from the CPC-GENE Subclonal Heterogeneity study using single and multiple regions
EGAD00001004443 | EGA
Genomics200PT_CNAs - samples
200PT : CNA vcf files. Copy Number Abberation calls generated using TITAN and PhyloWGS, from the CPCGene 200PT Subclonality study
EGAD00001004073 | EGA
GenomicsSubclonalHeterogeneity_SomaticSniper-Battenberg_CNVs - samples
CNA calls generated using the SomaticSniper-Battenberg-PhyloWGS from the CPC-GENE Subclonal Heterogeneity study
EGAD00001004405 | EGA
GenomicsSubclonalHeterogeneity_MuTect-Battenberg_CNVs - samples
CNA calls generated using the MuTect-Battenberg-PhyloWGS from the CPC-GENE Subclonal Heterogeneity study
EGAD00001004403 | EGA
GenomicsSubclonalHeterogeneity_regions_MuTect-TITAN_CNVs - samples
CNA calls generated using the MuTect-TITAN-PhyloWGS from the CPC-GENE Subclonal Heterogeneity study using single and multiple regions
EGAD00001004442 | EGA
GenomicsSubclonalHeterogeneity_MuTect-TITAN_CNVs - samples
CNA calls generated using the MuTect-TITAN-PhyloWGS from the CPC-GENE Subclonal Heterogeneity study
EGAD00001004404 | EGA
GenomicsSubclonalHeterogeneity_regions_SomaticSniper-Battenberg_CNVs - samples
CNA calls generated using the SomaticSniper-TITAN-PhyloWGS from the CPC-GENE Subclonal Heterogeneity study using single and multiple regions
EGAD00001004441 | EGA
GenomicsSubclonalHeterogeneity_regions_SomaticSniper-TITAN_CNVs - samples
CNA calls generated using the SomaticSniper-TITAN-PhyloWGS from the CPC-GENE Subclonal Heterogeneity study using single and multiple regions
EGAD00001004440 | EGA
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