The human genome contains about 20,000 protein-coding genes, but that only accounts for roughly two percent of the genome. For many years, it was easier for scientists to simply ignore all of that ...
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 ...
EMBL researchers created SDR-seq, a next-generation tool that decodes both DNA and RNA from the same cell. It finally opens access to non-coding regions, where most disease-associated genetic variants ...
Retinitis pigmentosa (RP) is a genetic eye disorder affecting around one in 5,000 people worldwide. It typically begins with ...
Researchers are investigating the role of non-coding DNA, or junk DNA, in regulating astrocytes, brain cells involved in ...
The non-coding genome, once dismissed as "junk DNA", is now recognized as a fundamental regulator of gene expression and a key player in understanding complex diseases. Following the landmark ...
Novel Gene and Variant Discovery in Human Genetic Disorders: From Coding and Non-Coding RNA variants
Rapid advances in sequencing technologies have transformed our ability to diagnose human genetic disorders, yet many patients still lack a molecular ...
What keeps our cells the right size? Scientists have long puzzled over this fundamental question, since cells that are too large or too small are linked to many diseases. Until now, the genetic basis ...
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 ...
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