Baratela-Scott syndrome (BSS) is a rare, autosomal-recessive disorder characterized by
short stature, facial dysmorphisms, developmental delay, and skeletal dysplasia caused by …

Tandem repeat (TR) expansion is the underlying cause of over 40 neurological disorders.
Long-read sequencing offers an exciting avenue over conventional technologies for …

Short tandem repeats (STRs) are genomic regions consisting of repeated sequences of 1–6
bp in succession. Single-nucleotide polymorphism (SNP)-based genome-wide association …

Genetic ataxias are associated with mutations in hundreds of genes with high phenotypic
overlap complicating the clinical diagnosis. Whole‐exome sequencing (WES) has increased …

Repeat expansions cause more than 30 inherited disorders, predominantly neurogenetic.
These can present with overlapping clinical phenotypes, making molecular diagnosis …

Frontotemporal dementia and amyotrophic lateral sclerosis are clinically and pathologically
overlapping disorders with shared genetic causes. We previously identified a disease locus …

Short tandem repeats (STRs) contribute significantly to genetic diversity in humans,
including disease-causing variation. Although the effect of STR variation on gene …

Despite recent improvements in basecalling accuracy, nanopore sequencing still has higher
error rates on short-tandem repeats (STRs). Instead of using basecalled reads, we …

High‐throughput sequencing (HTS) has revolutionized genetics by enabling the detection of
sequence variants at hitherto unprecedented large scale. Despite these advances, however …

Expansions of short tandem repeats (STRs) cause many rare diseases. Expansion detection
is challenging with short-read DNA sequencing data since supporting reads are often …