Tandem DNA repeats vary in the size and sequence of each unit (motif). When expanded,
these tandem DNA repeats have been associated with more than 40 monogenic disorders 1 . …

A remaining hurdle to whole-genome sequencing (WGS) becoming a first-tier genetic test
has been accurate detection of copy-number variations (CNVs). Here, we used several …

The hypothesis that mimicry between a self and a microbial peptide antigen is strictly related
to autoimmune pathology remains a debated concept in autoimmunity research. Clear …

Motivation: Kinase-mediated phosphorylation is the central mechanism of post-translational
modification to regulate cellular responses and phenotypes. Signaling defects associated …

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

Copy number variations (CNVs) are implicated across many neurodevelopmental disorders
(NDDs) and contribute to their shared genetic etiology. Multiple studies have attempted to …

Fully understanding autism spectrum disorder (ASD) genetics requires whole-genome
sequencing (WGS). We present the latest release of the Autism Speaks MSSNG resource, which …

Tandem repeat expansions (TREs) are associated with over 60 monogenic disorders and
have recently been implicated in complex disorders such as cancer and autism spectrum …

Huntington disease (HD) is caused by a CAG repeat expansion in the huntingtin (HTT) gene.
Although the length of this repeat is inversely correlated with age of onset (AOO), it does …

Kinome microarrays are comprised of peptides that act as phosphorylation targets for protein
kinases. This platform is growing in popularity due to its ability to measure phosphorylation-…