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GenomicsMetabolism and Genetics of Hypobetalipoproteinemia

Hypobetalipoproteinemia is characterized by extremely low levels of low-density lipoprotein cholesterol. Familial hypobetalipoproteinemia (FHBL) is a monogenic form of hypobetalipoproteinemia caused by mutations in the APOB gene. There are cases of hypobetalipoproteinemia not caused by mutations ...

phs000561.v1.p1 | EGA
GenomicsNational Human Genome Research Institute Tumor Sequencing Project (TSP) - Lung Adenocarcinoma

The Tumor Sequencing Project (TSP) Consortium is a collaboration among participants at the Baylor College of Medicine Human Genome Sequencing Center, the Broad Institute Genome Sequencing Platform, the Dana Farber Cancer Institute, the Memorial Sloan-Kettering Cancer Center, the Genome Seque...

phs000144.v1.p1 | EGA
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
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
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
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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