Long-read human genome sequencing and its applications
Over the past decade, long-read, single-molecule DNA sequencing technologies have
emerged as powerful players in genomics. With the ability to generate reads tens to …
emerged as powerful players in genomics. With the ability to generate reads tens to …
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 …
A robust benchmark for detection of germline large deletions and insertions
New technologies and analysis methods are enabling genomic structural variants (SVs) to
be detected with ever-increasing accuracy, resolution and comprehensiveness. To help …
be detected with ever-increasing accuracy, resolution and comprehensiveness. To help …
[HTML][HTML] Long-read sequencing emerging in medical genetics
T Mantere, S Kersten, A Hoischen - Frontiers in genetics, 2019 - frontiersin.org
The wide implementation of next-generation sequencing (NGS) technologies has
revolutionized the field of medical genetics. However, the short read lengths of currently …
revolutionized the field of medical genetics. However, the short read lengths of currently …
Human-specific genetics: new tools to explore the molecular and cellular basis of human evolution
Our ancestors acquired morphological, cognitive and metabolic modifications that enabled
humans to colonize diverse habitats, develop extraordinary technologies and reshape the …
humans to colonize diverse habitats, develop extraordinary technologies and reshape the …
Robust Hi-C maps of enhancer-promoter interactions reveal the function of non-coding genome in neural development and diseases
Genome-wide mapping of chromatin interactions at high resolution remains experimentally
and computationally challenging. Here we used a low-input" easy Hi-C" protocol to map the …
and computationally challenging. Here we used a low-input" easy Hi-C" protocol to map the …
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 …
Genetic variation, comparative genomics, and the diagnosis of disease
EE Eichler - New England Journal of Medicine, 2019 - Mass Medical Soc
Uncharted Regions of the Human Genome The genome is not akin to a string of fixed length.
Many large segments of DNA may be present or absent—a major contributor to pathogenic …
Many large segments of DNA may be present or absent—a major contributor to pathogenic …
Advancing genomic technologies and clinical awareness accelerates discovery of disease-associated tandem repeat sequences
T Gall-Duncan, N Sato, RKC Yuen… - Genome …, 2022 - genome.cshlp.org
Expansions of gene-specific DNA tandem repeats (TRs), first described in 1991 as a
disease-causing mutation in humans, are now known to cause> 60 phenotypes, not just …
disease-causing mutation in humans, are now known to cause> 60 phenotypes, not just …