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Rare genetic variants in yeast explain a large amount of phenotypic variation in a complex trait like growth.

A comprehensive platform is established for the evaluation of both current and future individuals afflicted with the UBA5-associated developmental and epileptic encephalopathy.

Genome-wide association studies on a diallel yeast panel revealed the relevance of low-frequency variants on the phenotypic diversity and consequently on the missing heritability at a population-scale.

A genome-wide association study using whole-genome sequencing data identifies the first known susceptibility genes for posterior urethral valves, the most common cause of kidney failure in boys, implicating the transcription factor TBX5 and planar cell polarity gene PTK7.

Correction for stratification in genome-wide association studies should be informed by the demographic history of the sample.

An ethnically robust pipeline for inferring mitochondrial DNA copy number from genotyping arrays was developed and applied to the UKBiobank, elucidating several common and rare loci in genes involved in the synthesis, maintenance, and organization of mitochondrial DNA.

Biallelic variants in MCAT are associated with combined oxidative phosphorylation deficiency in humans and a clinical presentation that includes hypotonia, developmental delay, failure to thrive, and nystagmus.

Autosomal dominant IRF4 deficiency is the first genetic etiology of Whipple's disease, a very rare chronic condition following a rather common infection by Tropheryma whipplei.

A novel mutation in SCGN is associated with risk for inflammatory bowel disease and implicates the intestinal neuroendocrine compartment in the pathogenesis of this disorder.

In the context of susceptibility to severe COVID-19, the observations of a study provide the basis for a personalized interferon-based therapy in patients with rare TLR7 variants.