[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 …
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 …
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 …
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 …
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 …
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
Affordable genome sequencing technologies promise to revolutionize the field of human
genetics by enabling comprehensive studies that interrogate all classes of genome …
genetics by enabling comprehensive studies that interrogate all classes of genome …
SVIM: structural variant identification using mapped long reads
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 …
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
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 …
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 …
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 …
is not completely understood. We find that EWS-FLI1 reprograms gene regulatory circuits in …