Tandem repeats mediating genetic plasticity in health and disease
AJ Hannan - Nature Reviews Genetics, 2018 - nature.com
Accumulating evidence suggests that many classes of DNA repeats exhibit attributes that
distinguish them from other genetic variants, including the fact that they are more liable to …
distinguish them from other genetic variants, including the fact that they are more liable to …
Long-read sequencing in deciphering human genetics to a greater depth
Through four decades' development, DNA sequencing has inched into the era of single-
molecule sequencing (SMS), or the third-generation sequencing (TGS), as represented by …
molecule sequencing (SMS), or the third-generation sequencing (TGS), as represented by …
Long-read sequencing of 3,622 Icelanders provides insight into the role of structural variants in human diseases and other traits
Long-read sequencing (LRS) promises to improve the characterization of structural variants
(SVs). We generated LRS data from 3,622 Icelanders and identified a median of 22,636 SVs …
(SVs). We generated LRS data from 3,622 Icelanders and identified a median of 22,636 SVs …
The landscape of human STR variation
Short tandem repeats are among the most polymorphic loci in the human genome. These
loci play a role in the etiology of a range of genetic diseases and have been frequently …
loci play a role in the etiology of a range of genetic diseases and have been frequently …
Polymorphic tandem repeats within gene promoters act as modifiers of gene expression and DNA methylation in humans
Despite representing an important source of genetic variation, tandem repeats (TRs) remain
poorly studied due to technical difficulties. We hypothesized that TRs can operate as …
poorly studied due to technical difficulties. We hypothesized that TRs can operate as …
Straglr: discovering and genotyping tandem repeat expansions using whole genome long-read sequences
Tandem repeat (TR) expansion is the underlying cause of over 40 neurological disorders.
Long-read sequencing offers an exciting avenue over conventional technologies for …
Long-read sequencing offers an exciting avenue over conventional technologies for …
Genome-wide mutational spectra analysis reveals significant cancer-specific heterogeneity
Cancer is widely recognized as a genetic disease in which somatic mutations are
sequentially accumulated to drive tumor progression. Although genomic landscape studies …
sequentially accumulated to drive tumor progression. Although genomic landscape studies …
Variable glutamine-rich repeats modulate transcription factor activity
Excessive expansions of glutamine (Q)-rich repeats in various human proteins are known to
result in severe neurodegenerative disorders such as Huntington's disease and several …
result in severe neurodegenerative disorders such as Huntington's disease and several …
The overdue promise of short tandem repeat variation for heritability
MO Press, KD Carlson, C Queitsch - Trends in Genetics, 2014 - cell.com
Short tandem repeat (STR) variation has been proposed as a major explanatory factor in the
heritability of complex traits in humans and model organisms. However, we still struggle to …
heritability of complex traits in humans and model organisms. However, we still struggle to …
CRISPR–Cas9-targeted fragmentation and selective sequencing enable massively parallel microsatellite analysis
Microsatellites are multi-allelic and composed of short tandem repeats (STRs) with
individual motifs composed of mononucleotides, dinucleotides or higher including …
individual motifs composed of mononucleotides, dinucleotides or higher including …