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UnknownThe EN-TEx resource of multi-tissue personal epigenomes & variant-impact models.
Not available
S-EPMC10074325 | biostudies-literature
ProteomicsThe EN-TEx Resource for Personal Functional Genomics
An overall goal of functional genomics has been to measure the impact of variants on molecular endophenotypes (e.g. gene expression levels or the degree of TF binding) and relate this to organismal traits and disease phenotypes. However, all the experiments to date have been described relative to a ...
ORGANISM(S): Homo sapiens (Human) 
2024-05-22 | PXD022787 | Pride
Personal genomics Tmt Human Proteogenomics Tissue En-tex 
OtherWGS from transverse colon (ENCSR420NDH)
The data contained in this experiment correspond to Illumina-based whole genome shotgun sequencing of EN-TEX donor ENCDO271OUW, a 51 year old female. There are two libraries: PCR-based (9-cycle, ENCLB659IQW) and PCR-free (ENCLB898JVB), both sequenced on multiple lanes to a combined depth of ~ 60X in...
ORGANISM(S): Homo sapiens 
2021-06-15 | GSE177195 | GEO
OtherWGS from transverse colon (ENCSR549QWF)
The data contained in this experiment correspond to Illumina-based whole genome shotgun sequencing of EN-TEX donor ENCDO451RUA, a 54 year old male. There are two libraries: PCR-based (9-cycle, ENCLB694UOK) and PCR-free (ENCLB257VPS), both sequenced on multiple lanes to a combined depth of ~ 60X in P...
ORGANISM(S): Homo sapiens 
2021-06-15 | GSE177316 | GEO
OtherWGS from transverse colon (ENCSR246MMZ)
The data contained in this experiment correspond to Illumina-based whole genome shotgun sequencing of EN-TEX donor ENCDO845WKR, a 37 year old male. There are two libraries: PCR-based (9-cycle, ENCLB436FSE) and PCR-free (ENCLB480CRB), both sequenced on multiple lanes to a combined depth of ~ 60X in P...
ORGANISM(S): Homo sapiens 
2021-06-15 | GSE176869 | GEO
OtherWGS from transverse colon (ENCSR961ZRM)
The data contained in this experiment correspond to Illumina-based whole genome shotgun sequencing of EN-TEX donor ENCDO793LXB, a 53 year old female. There are two libraries: PCR-based (9-cycle, ENCLB388OQF) and PCR-free (ENCLB358DLU), both sequenced on multiple lanes to a combined depth of ~ 60X in...
ORGANISM(S): Homo sapiens 
2021-06-15 | GSE177949 | GEO
Methylation profilingmethylGrapher: Genome-Graph-Based Processing of DNA Methylation Data from Whole Genome Bisulfite Sequencing
Genome graphs, including the recently released draft human pangenome graph, can represent the breadth of genetic diversity and thus transcend the limits of traditional linear reference genomes. However, there are no genome-graph-compatible tools for analyzing whole genome bisulfite sequencing (WGBS)...
ORGANISM(S): Homo sapiens 
2025-02-01 | GSE261315 | GEO
UnknownmethylGrapher: genome-graph-based processing of DNA methylation data from whole genome bisulfite sequencing.
Not available
S-EPMC11770346 | biostudies-literature
GenomicsmethylGrapher: Genome-Graph-Based Processing of DNA Methylation Data from Whole Genome Bisulfite Sequencing
methylGrapher: Genome-Graph-Based Processing of DNA Methylation Data from Whole Genome Bisulfite Sequencing
PRJNA1086543 | ENA
UnknownLong-term outcomes of 176 patients with X-linked hyper-IgM syndrome treated with or without hematopoietic cell transplantation.
Not available
S-EPMC5374029 | biostudies-literature
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