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ProteomicsA ubiquitin-based effector-to-inhibitor switch coordinates brain, craniofacial, and skin development
The molecular mechanisms that coordinate patterning of the embryonic ectoderm into spatially distinct lineages to form the nervous system, epidermis, and craniofacial structures are unclear. Here, biochemical disease-variant profiling reveals a posttranslational pathway that drives early ectodermal ...
ORGANISM(S): Homo Sapiens (ncbitaxon:9606) 
2022-11-14 | MSV000090711 | MassIVE
ProteomicsShared and Distinct Mechanisms of UBA1 Inactivation Across Different Diseases
UBA1 initiates most cellular ubiquitin signaling by activating and transferring ubiquitin to tens of E2 enzymes. Clonally acquired UBA1 missense mutations cause a severe inflammatory-hematologic overlap disease called VEXAS (vacuoles, E1, X-linked autoinflammatory, somatic) syndrome. Despite extensi...
ORGANISM(S): Homo Sapiens (ncbitaxon:9606) 
MSV000092914 | MassIVE
GenomicsGoT2D: Genetics of Type 2 Diabetes, a study of the the genetic architecture of type 2 diabetes using low pass whole genome sequencing and high density SNP genotyping in 2,657 individuals.
The Genetics of Type 2 Diabetes Consortium (GoT2D) is a collaboration between the University of Michigan, the Broad Institute and the Wellcome Trust Centre for Human Genetics. The overall aim is to extend upon recent efforts, such as genome-wide association studies (GWAS) and large scale meta-analys...
EGAS00001001459 | EGA
Genomicsena-DATASET-GoT2D/T2D-GENES-09-07-2016-02:03:47:226-1135 - samples
The GoT2D study includes ~2800 samples, half T2D cases and half T2D controls, of Northern European ancestry sequenced over 3 three technologies: deep whole exome sequencing, low-pass (4x) whole genome sequencing, and OMNI 2.5M genotyping. Samples were ascertained to be phenotypically "extreme" (e.g....
EGAD00001002247 | EGA
GenomicsImputation analysis file
This data set includes the following summary level data file used for the imputation data: imputation.sv.assoc.txt: results from single variant association analysis in imputed samples
EGAD00010001184 | EGA
Genomics13K T2D-GENES analysis files
This data set includes the following summary level data files used for the 13k analysis of T2D-GENES data: wes.variants.list: list of variants to keep for any analysis of the exomes data wes.assoc.samples.list: list of samples to keep for association analysis wes.assoc.variants.list: list of variant...
EGAD00010001188 | EGA
GenomicsGoT2D WGS analysis files
This data set includes the following summary level data files used for the GoT2D WGS analysis: wgs.assoc.samples.list: list of samples to keep for association analysis wgs.assoc.variants.list: list of variants to keep for association analysis wgs.sv.assoc.txt: single variant association results
EGAD00010001185 | EGA
GenomicsExome chip analysis file
This data set includes the following summary level data file used for the exome chip analysis: exome_chip.sv.assoc.txt: results from single variant association analysis in exome chip
EGAD00010001187 | EGA
Genomicsena-DATASET-GoT2D/T2D-GENES-08-07-2016-21:22:44:693-1130 - samples
The T2D-GENES/GoT2D 13K exome sequencing study includes ~13,000 samples, half T2D cases and half T2D controls, from five ancestries (~5K Europeans, ~2K each of African-American, East-Asian, South-Asian, and Hispanic). Samples underwent deep exome sequencing, with SNVs and INDEls called according to ...
EGAD00001002246 | EGA
GenomicsT2D-GENES: Exome sequencing
The Type 2 Diabetes Genetic Exploration by Next-generation sequencing in multi-Ethnic Samples (T2D-GENES) is a large collaboration effort between the University of Michigan, Broad Institute, the Wellcome Trust Centre for Human Genetics, University of Chicago, NIDDK, Texas Biomedical Research Institu...
EGAS00001001460 | EGA
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