Genotype-to-phenotype mapping commonly focuses on two major classes of mutations:
single nucleotide polymorphisms (SNPs) and copy number variation (CNV). Here, we …

Structural variants (SVs) and short tandem repeats (STRs) are important sources of genetic
diversity but are not routinely analyzed in genetic studies because they are difficult to …

Motivation: Advances in sequencing technologies and computational algorithms have
enabled the study of genomic variants to dissect their functional consequence. Despite this …

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 …

Repetitive DNA sequences constitute a large fraction of the genomes of humans and other
animal species. Tandem repeats are a major class of repetitive DNA and the extent of their …

Structural variants (SVs) and short tandem repeats (STRs) comprise a broad group of
diverse DNA variants which vastly differ in their sizes and distributions across the genome …

Germline mutations of 24 short tandem repeat (STR) loci (TPOX, D3S1358, FGA, D5S818,
CSF1PO, D7S820, D8S1179, TH01, vWA, D13S317, Penta E, D16S539, D18S51, Penta D …

Short tandem repeats (STRs) have a wide range of applications, including medical genetics,
forensics, and genetic genealogy. High-throughput sequencing (HTS) has the potential to …

Tandem repeat (TR) variation is associated with gene expression changes and numerous
rare monogenic diseases. Although long-read sequencing provides accurate full-length …

Variable number tandem repeats (VNTRs) account for significant genetic variation in many
organisms. In humans, VNTRs have been implicated in both Mendelian and complex …