Short tandem repeats (STRs) are a class of repetitive elements, composed of tandem arrays
of 1–6 base pair sequence motifs, that comprise a substantial fraction of the human genome …

Insertions and deletions constitute the second most important source of natural genomic
variation. Insertions and deletions make up to 25% of genomic variants in humans and are …

Previous studies suggested that the copy number of the human salivary amylase gene,
AMY1, correlates with starch-rich diets. However, evolutionary analyses are hampered by …

Nucleotide repeat expansions in the human genome are a well-known cause of
neurological disease. In the past decade, advances in DNA sequencing technologies have …

Using five complementary short-and long-read sequencing technologies, we phased and
assembled> 95% of each diploid human genome in a four-generation, 28-member family …

Short tandem repeats (STRs) are consecutive repetitions of one to six nucleotide motifs.
They are hypervariable due to the high prevalence of repeat unit insertions or deletions …

In this study, we explore the landscape of short tandem repeats (STRs) within the human
genome through the lens of evolving technologies to detect genomic variations. STRs, which …

Copy number variations (CNVs) have garnered increasing attention within the realm of
genetics due to their prevalence in human, animal, and plant genomes. These structural …

Short tandem repeat (STR) mutations are prevalent in colorectal cancer (CRC), especially in
tumours with the microsatellite instability (MSI) phenotype. While STR length variations are …

Simple sequence repeats (SSRs) are found in nonrandom distributions in genomes and are
thought to impact gene expression. The distribution patterns of 48 295 SSRs of …