Researchers from Children's Hospital of Philadelphia (CHOP) and the Perelman School of Medicine at the University of Pennsylvania (Penn Medicine) have successfully employed an algorithm to identify ...

Researchers have been chipping away at the genetic causes of congenital heart disease (CHD) for a couple of decades. About 45% of cases of CHD have an identifiable cause, including chromosomal ...

Post-transcriptional regulation by non-coding RNAs (ncRNAs) can modulate the expression of genes involved in kidney physiology and disease. A large variety of ncRNA species exist, including microRNAs, ...

The alternative text for this image may have been generated using AI. Fig. 2: Multi-ancestry meta-analysis of rare genetic variation across three sequenced biobanks in over 750,000 individuals ...

The expression of genes has to be very carefully controlled by cells; serious problems can arise when genes are expressed in the wrong places, at the wrong times, or at the wrong levels, for some ...

Researchers have revealed that so-called ‘junk DNA’ contains powerful switches that help control brain cells linked to Alzheimer’s disease. When people picture DNA, they often imagine a set of genes ...

Leveraging Digital Technology and Artificial Intelligence to Describe the Real-World Belgian Chronic Lymphocytic Leukemia Patient Population: The BE-CLLEAR Study We analyzed 21,364 pathology reports ...

Genome-wide association studies (GWAS) have identified multiple loci associated with complex diseases, but these are mostly on regulatory genes in the non-coding part of the genome and it has proved ...

UNC Health, based in Chapel Hill, N.C., has launched what it called the world’s first standardized rare-disease coding tool, integrating Mondo Disease Ontology codes into its EHR. As part of Epic’s ...

Researchers have successfully employed an algorithm to identify potential mutations which increase disease risk in the noncoding regions our DNA, which make up the vast majority of the human genome.