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Mitochondrial ribosomes (mitoribosomes) have undergone substantial structural remodelling throughout evolution leading to distinct structural properties compared to their prokaryotic ancestors. Compared to their prokaryotic counterparts, mitoribosomes show a substantial loss of ribosomal RNA (rRNA),...
ORGANISM(S): Homo sapiens (Human) 
2024-08-09 | PXD034224 | Pride
Autosomal dominant polycystic kidney disease (ADPKD) is a common cause of ESRD. Affected individuals inherit a defective copy of either the PKD1 or PKD2 gene, encoding the proteins polycystin?1 (PC1) or polycystin?2 (PC2) respectively. PC1 and PC2 are secreted on urinary exosome?like vesicles (ELVs)...
ORGANISM(S): Homo Sapiens (ncbitaxon:9606) 
2016-03-01 | MSV000079547 | MassIVE

The Family Heart Study (FamHS) was funded by the National Heart, Lung, and Blood Institute (NHLBI). It was begun in 1992 with the ascertainment of 1,200 families, half randomly sampled, and half selected because of an excess of coronary heart disease (CHD) or risk factor abnormalities as compared...

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....
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
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...
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
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
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