Microsatellites–a type of short tandem repeat (STR)–have been used for decades as
putatively neutral markers to study the genetic structure of diverse human populations …

Repeat expansion disorders are a unique class of genetic diseases caused by expansions
of short tandem repeats. Until recently, these pathogenic variations were detected with locus …

Autism spectrum disorder (ASD) is a childhood-onset, life-long neurodevelopmental
disorder, which is both genetically and clinically heterogeneous. Over the past few decades …

Short tandem repeats (STRs) are amongst the most abundant class of variations in human
genomes and are meiotically and mitotically unstable which leads to expansions and …

Background The androgen receptor (AR) is a nuclear receptor, encoded by the AR gene on
the X chromosome. Within the first exon of the AR gene, two short tandem repeats (STR) …

Autosomal dominant cerebellar ataxias (ADCA) are heterogeneous diseases with a highly
variable phenotype and genotype. They can be divided into episodic ataxia and …

Cette étude pilote vise à développer une méthode d'analyse intégrative qui permet
d'augmenter le taux de réussite du diagnostic clinique des mutations génétiques rares. De …

Expansion of a single repetitive DNA sequence, termed a tandem repeat (TR), is known to
cause more than 50 diseases. However, repeat expansions are often not explored beyond …

The sequence contexts of genomic variants play important roles in understanding biological
significances of variants and potential sequencing related variant calling issues. However …

2001-a breakthrough year for geneticists: the year in which the most important biological
code was published. Groups from the US, UK, Japan, Germany and China collaborated to …