Sort   by:  
 Page size 

We investigated the cumulative contribution of rare, exonic genetic variants on the concentration of 1,487 metabolites and 53,714 metabolite ratios in urine by performing gene-based tests based on 226,233 variants from up to 4,864 participants of the German Chronic Kidney Disease (GCKD)...

2021-03-09 | MTBLS284 | MetaboLights
Whole-genome tiling arrays were used to validate deletions and tandem duplications that were inferred based on next-generation sequencing data. The arrays were generated for six samples of the Drosophila melanogaster Genetic Reference Panel (DGRP) as well as the Berkeley reference strain. Structural...
ORGANISM(S): Drosophila melanogaster 
Pathogenic Structural Variants in Leukemia Genomes
Structural characterization of ribosome variants
Structural variants drive context dependent oncogene activation in cancer
Genetic variation amongst individual humans occurs on many different scales, ranging from gross alterations in the human karyotype to single-nucleotide changes. In this manuscript we explore variation on an intermediate scale-particularly insertions, deletions, and inversions affecting from a few t...
ORGANISM(S): Homo sapiens 
Linked-Read Sequencing to Resolve Complex Structural Variants
Linked-Read Sequencing to Resolve Complex Structural Variants
Expression data from leukemic patients with complex structural variants
Cystic Fibrosis (CF) is a lethal genetic disorder caused by variants in CF transmembrane conductance regulator (CFTR). Many disease variants are treatable with corrector compounds, which enhance the folding and trafficking of CFTR. However, correctors fail to elicit a response for every CFTR variant...
ORGANISM(S): Homo sapiens (Human) 
2025-10-27 | PXD055156 | Pride
Sort   by:  
 Page size