JASPAR ( http://jaspar.genereg.net ) is an open-access database of curated, non-redundant
transcription factor (TF)-binding profiles stored as position frequency matrices (PFMs) for …

Polyploidy is observed across the tree of life, yet its influence on evolution remains incompletely
understood 1 , 2 , 3 , 4 . Polyploidy, usually whole-genome duplication, is proposed to …

STAT6 (signal transducer and activator of transcription 6) is a transcription factor that plays
a central role in the pathophysiology of allergic inflammation. We have identified 16 patients …

Repeat expansions are responsible for over 40 monogenic disorders, and undoubtedly
more pathogenic repeat expansions remain to be discovered. Existing methods for detecting …

Studying the importance of genetic factors in a desired cell type or tissue necessitates the
use of precise genetic tools. With the introduction of bacteriophage Cre recombinase/loxP …

We report an inborn error of metabolism caused by an expansion of a GCA-repeat tract in
the 5′ untranslated region of the gene encoding glutaminase (GLS) that was identified …

Background Mammalian X and Y chromosomes share a common evolutionary origin and
retain regions of high sequence similarity. Similar sequence content can confound the …

Histone deacetylase inhibitors (HDACIs) are known to alter gene expression by both up- and
down-regulation of protein-coding genes in normal and cancer cells. However, the exact …

Background Expansions of short tandem repeats are the cause of many neurogenetic disorders
including familial amyotrophic lateral sclerosis, Huntington disease, and many others. …

Genome-wide sequencing (GWS) is a standard of care for diagnosis of suspected genetic
disorders, but the proportion of patients found to have pathogenic or likely pathogenic variants …