… not identify repeat expansions in these datasets. We developed exSTRa (expanded short
tandem repeat algorithm), a method that uses either WES or WGS to identify repeat expansions…

… repeat numbers. Applying our model and pipeline to Illumina sequencing data with 100-bp
reads, we … sequenced human pedigree. Additionally, we built a tool that recommends minimal …

… to be adapted for PacBio sequencing data. Generally, running … accuracies translate for real
sequencing data, we refer to [17], … thaliana, from Illumina paired-end short reads. This limited …

… Current NGS platforms produce shorter reads than Sanger sequencing, but with much …
First, it provides sequence data, which allows discrimination of the alleles with the same length …

… Short tandem repeats (STRs) are some of the fastest … STRs from high-throughput sequencing
data have enabled genome-… First, short reads often do not span entire repeats, effectively …

… sequencing data (HTS), but genotyping still remains challenging for many reasons, including
issues with extreme GC content, short read lengths that do not span over the entire repeat, …

… By comparing to healthy controls, we prioritize pathogenic expansions within the top 10
out of 700,000 tandem repeats in whole genome sequencing data. This may help to elucidate …

… The latest PacBio HiFi sequencing data surpass short-read sequencing in accurately calling
… as barcode-linked read sequencing, which barcodes short reads as arising from a longer …

… expansions of short tandem repeats (STRs), ie DNA repeats of … sequencing can quickly
produce billions of short reads that … All primary sequencing data of the SCA31 sample will be …

… sequencing data (eg, the 1000 genome sequencing data), we assume the difference between
the STR pattern and its occurrence in the sequence reads … results showed that short reads …