Transposable elements in human genetic disease

LM Payer, KH Burns - Nature Reviews Genetics, 2019 - nature.com
Transposable elements are abundant in the human genome, and great strides have been
made in pinpointing variations in these repetitive sequences using whole-genome …

Transposable elements in cancer

KH Burns - Nature Reviews Cancer, 2017 - nature.com
Transposable elements give rise to interspersed repeats, sequences that comprise most of
our genomes. These mobile DNAs have been historically underappreciated—both because …

[HTML][HTML] Pan-cancer analysis of whole genomes identifies driver rearrangements promoted by LINE-1 retrotransposition

B Rodriguez-Martin, EG Alvarez, A Baez-Ortega… - Nature …, 2020 - nature.com
About half of all cancers have somatic integrations of retrotransposons. Here, to characterize
their role in oncogenesis, we analyzed the patterns and mechanisms of somatic …

[HTML][HTML] An integrated map of structural variation in 2,504 human genomes

PH Sudmant, T Rausch, EJ Gardner, RE Handsaker… - Nature, 2015 - nature.com
Structural variants are implicated in numerous diseases and make up the majority of varying
nucleotides among human genomes. Here we describe an integrated set of eight structural …

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 …

The Mobile Element Locator Tool (MELT): population-scale mobile element discovery and biology

EJ Gardner, VK Lam, DN Harris, NT Chuang… - Genome …, 2017 - genome.cshlp.org
Mobile element insertions (MEIs) represent∼ 25% of all structural variants in human
genomes. Moreover, when they disrupt genes, MEIs can influence human traits and …

Resolving the complexity of the human genome using single-molecule sequencing

MJP Chaisson, J Huddleston, MY Dennis, PH Sudmant… - Nature, 2015 - nature.com
The human genome is arguably the most complete mammalian reference assembly,,, yet
more than 160 euchromatic gaps remain,, and aspects of its structural variation remain …

The impact of transposable elements in adaptive evolution

L Schrader, J Schmitz - Molecular Ecology, 2019 - Wiley Online Library
The growing knowledge about the influence of transposable elements (TE s) on (a) long‐
term genome and transcriptome evolution;(b) genomic, transcriptomic and epigenetic …

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 …

[HTML][HTML] Personal omics profiling reveals dynamic molecular and medical phenotypes

R Chen, GI Mias, J Li-Pook-Than, L Jiang, HYK Lam… - Cell, 2012 - cell.com
Personalized medicine is expected to benefit from combining genomic information with
regular monitoring of physiological states by multiple high-throughput methods. Here, we …