Short-read next generation sequencing (NGS) has become the predominant first-line
technique used to diagnose patients with rare genetic conditions. Inherent limitations of …

Detection of short tandem repeat (STR) expansions with standard short-read sequencing is
challenging due to the difficulty in mapping multicopy repeat sequences. In this study, we …

Abstract Background Short tandem repeats (STRs) are widely distributed across the human
genome and are associated with numerous neurological disorders. However, the extent that …

Approximately three percent of the human genome is occupied by microsatellites: a type of
short tandem repeat (STR). Microsatellites have well established effects on (a) the genetic …

The vast quantities of short-read sequencing data being generated are often exchanged and
stored as aligned reads. However, aligned data becomes outdated as new reference …

Approximately half of the human genome includes repetitive sequences, and these DNA
sequences (as well as their transcribed repetitive RNA and translated amino-acid repeat …

Abstract Introduction: Short tandem repeats (STRs) have been used for various identity
typing methods worldwide. They have high discrimination power in human identification in …

Increasingly affordable sequencing technologies are revolutionizing the field of genomic
medicine. It is now feasible to interrogate all major classes of variation in an individual …

DNA sequences of ideal and natural geometries are examined, studying their charge
transport properties as mutation detectors. Ideal means textbook geometry. Natural means …

Abstract Summary popSTR2 is an update and augmentation of our previous work 'popSTR:
a population-based microsatellite genotyper'. To make genotyping sensitive to inter-sample …