Search
Search Results
-
Decoding protein–RNA interactions using CLIP-based methodologies
Protein–RNA interactions are central to all RNA processing events, with pivotal roles in the regulation of gene expression and cellular functions....
-
Metabolic gene function discovery platform GeneMAP identifies SLC25A48 as necessary for mitochondrial choline import
Organisms maintain metabolic homeostasis through the combined functions of small-molecule transporters and enzymes. While many metabolic components...
-
Establishing African genomics and bioinformatics programs through annual regional workshops
The African BioGenome Project (AfricaBP) Open Institute for Genomics and Bioinformatics aims to overcome barriers to capacity building through its...
-
Unsupervised representation learning on high-dimensional clinical data improves genomic discovery and prediction
Although high-dimensional clinical data (HDCD) are increasingly available in biobank-scale datasets, their use for genetic discovery remains...
-
The potential and translational application of infant genetic research
In the current genomic revolution, the infancy life stage is the most neglected. Although clinical genetics recognizes the value of early...
-
Telomere-to-telomere Citrullus super-pangenome provides direction for watermelon breeding
To decipher the genetic diversity within the cucurbit genus Citrullus , we generated telomere-to-telomere (T2T) assemblies of 27 distinct genotypes,...
-
Bayesian estimation of gene constraint from an evolutionary model with gene features
Measures of selective constraint on genes have been used for many applications, including clinical interpretation of rare coding variants, disease...
-
-
Saturation genome editing maps the functional spectrum of pathogenic VHL alleles
To maximize the impact of precision medicine approaches, it is critical to identify genetic variants underlying disease and to accurately quantify...
-
Saturation genome editing of BAP1 functionally classifies somatic and germline variants
Many variants that we inherit from our parents or acquire de novo or somatically are rare, limiting the precision with which we can associate them...
-
-
-
-
-
Homopolymer switches mediate adaptive mutability in mismatch repair-deficient colorectal cancer
Mismatch repair (MMR)-deficient cancer evolves through the stepwise erosion of coding homopolymers in target genes. Curiously, the MMR genes MutS...
