Transcript variation has important implications for organismal function in health and disease. Most transcriptome studies focus on assessing variation in gene expression levels and isoform representation. Variation at the level of transcript sequence is caused by RNA editing and transcription errors, and leads to nongenetically encoded transcript variants, or RNA-DNA differences (RDDs). Such va...

The Japanese crested ibis is an internationally conserved, critically threatened bird. Captive-breeding programs have been established to conserve this species in Japan. Since the current Japanese population of crested ibis originates only from 5 founders donated by the Chinese government, understanding the genetic diversity between them is critical for an effective population management. To di...

We investigated the relationship between primary congenital glaucoma (PCG) in the Chinese Han population and its candidate locus GLC3C. 152 nuclear families (patients with normal parents) without carrying the CYP1B1 mutation were enrolled. Fluorescence Labeled Multiplex-PCR was used to genotype 12 short tandem repeats (STRs) within GLC3C region and transmission disequilibrium test (TDT) was use...

In the past 5 years, there has been a substantial increase in the use of Y-short tandem repeat loci (Y-STRs) in forensic laboratories, especially in cases where typing autosomal STRs has met with limited success. The AmpFlSTR Yfiler PCR amplification kit simultaneously amplifies 17 Y-STR loci including the loci in the "European minimal haplotype" (DYS19, DYS385a/b, DYS389I, DYS389II, DYS390, DY...

AIM To characterize the noise and stutter distribution of 23 short tandem repeats (STRs) included in the PowerSeqTM Auto System. METHODS Raw FASTQ files were analyzed using STRait Razor v2s to display alleles and coverage. The sequence noise was divided into several categories: noise at allele position, noise at -1 repeat position, and artifact. The average relative percentages of locus cover...

A tandem repeat's (TR) propensity to mutate increases with repeat number, and can become very pronounced beyond a critical boundary, transforming it into a microsatellite (MS). However, a clear understanding of the mutational behavior of different TR classes and motifs and related mechanisms is lacking, as is a consensus on the existence of a boundary separating short TRs (STRs) from MSs. This ...

Polymorphic Y-chromosomal short tandem repeats (Y-STRs) are being employed for phylogenetic and evolutionary studies as well as for forensic applications. Precise knowledge of mutation types and rates is essential and has hitherto been obtained from computer simulation or small-sized father/son pairs, or derived from the more intensively studied autosomal STRs, respectively. To establish more a...

Estimates of erosion and sediment delivery have often relied on measurements from locations that were selected to be representative of particular terrain types. Such judgement samples are likely to overestimate or underestimate the mean of the quantity of interest. Probability sampling can eliminate the bias due to sample selection, and it permits the explicit expression of uncertainty with est...

Duchenne muscular dystrophy (DMD) is an X-linked recessive disease caused by mutations in the dystrophin gene and is characterized by muscle degeneration and death. DMD affects males; females being asymptomatic carriers of mutations. However, some of them manifest symptoms due to a translocation between X chromosome and an autosome or to a heterozygous mutation leading to inactivation of most o...

Cannabis sativa is the most frequently used of all illicit drugs in the USA. Cannabis has been used throughout history for its stems in the production of hemp fiber, seed for oil and food, and buds and leaves as a psychoactive drug. Short tandem repeats (STRs) were chosen as molecular markers owing to their distinct advantages over other genetic methods. STRs are codominant, can be standardized...