[HTML][HTML] 30 years of repeat expansion disorders: What have we learned and what are the remaining challenges?

C Depienne, JL Mandel - The American Journal of Human Genetics, 2021 - cell.com
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 …

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 …

[HTML][HTML] Engineering triangular carbon quantum dots with unprecedented narrow bandwidth emission for multicolored LEDs

F Yuan, T Yuan, L Sui, Z Wang, Z Xi, Y Li, X Li… - Nature …, 2018 - nature.com
Carbon quantum dots (CQDs) have emerged as promising materials for optoelectronic
applications on account of carbon's intrinsic merits of high stability, low cost, and …

Genome-wide detection of tandem DNA repeats that are expanded in autism

B Trost, W Engchuan, CM Nguyen… - Nature, 2020 - nature.com
Tandem DNA repeats vary in the size and sequence of each unit (motif). When expanded,
these tandem DNA repeats have been associated with more than 40 monogenic disorders …

Sequencing and characterizing short tandem repeats in the human genome

HA Tanudisastro, IW Deveson, H Dashnow… - Nature Reviews …, 2024 - nature.com
Short tandem repeats (STRs) are highly polymorphic sequences throughout the human
genome that are composed of repeated copies of a 1–6-bp motif. Over 1 million variable …

[HTML][HTML] Genomic analysis in the age of human genome sequencing

T Lappalainen, AJ Scott, M Brandt, IM Hall - Cell, 2019 - cell.com
Affordable genome sequencing technologies promise to revolutionize the field of human
genetics by enabling comprehensive studies that interrogate all classes of genome …

SVIM: structural variant identification using mapped long reads

D Heller, M Vingron - Bioinformatics, 2019 - academic.oup.com
Motivation Structural variants are defined as genomic variants larger than 50 bp. They have
been shown to affect more bases in any given genome than single-nucleotide …

Discovery and genotyping of structural variation from long-read haploid genome sequence data

J Huddleston, MJP Chaisson, KM Steinberg… - Genome …, 2017 - genome.cshlp.org
In an effort to more fully understand the full spectrum of human genetic variation, we
generated deep single-molecule, real-time (SMRT) sequencing data from two haploid …

The impact of short tandem repeat variation on gene expression

SF Fotsing, J Margoliash, C Wang, S Saini, R Yanicky… - Nature …, 2019 - nature.com
Short tandem repeats (STRs) have been implicated in a variety of complex traits in humans.
However, genome-wide studies of the effects of STRs on gene expression thus far have had …

[HTML][HTML] EWS-FLI1 utilizes divergent chromatin remodeling mechanisms to directly activate or repress enhancer elements in Ewing sarcoma

N Riggi, B Knoechel, SM Gillespie, E Rheinbay… - Cancer cell, 2014 - cell.com
The aberrant transcription factor EWS-FLI1 drives Ewing sarcoma, but its molecular function
is not completely understood. We find that EWS-FLI1 reprograms gene regulatory circuits in …