Short tandem repeats (STRs), also known as microsatellites, are commonly defined as
consisting of tandemly repeated nucleotide motifs of 2–6 base pairs in length. STRs appear …

Microsatellite expansion, such as trinucleotide repeat expansion (TRE), is known to cause a
number of genetic diseases. Sanger sequencing and next-generation short-read …

Identifying large expansions of short tandem repeats (STRs), such as those that cause
amyotrophic lateral sclerosis (ALS) and fragile X syndrome, is challenging for short-read …

We describe a novel computational method for genotyping repeats using sequence graphs.
This method addresses the long-standing need to accurately genotype medically important …

Short tandem repeats (STRs) are some of the fastest mutating loci in the genome. Tools for
accurately profiling STRs from high-throughput sequencing data have enabled genome …

Motivation: Resolving tandemly repeated genomic sequences is a necessary step in
improving our understanding of the human genome. Short tandem repeats (TRs), or …

Short tandem repeats (STRs) are implicated in dozens of human genetic diseases and
contribute significantly to genome variation and instability. Yet profiling STRs from short-read …

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

Tandem repeats represent one of the most abundant class of variations in human genomes,
which are polymorphic by nature and become highly unstable in a length-dependent …

Short tandem repeats (STRs) are abundant and highly mutagenic in the human genome.
Many STR loci have been associated with a range of human genetic disorders. However …