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 …
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 …
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 …
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
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 …
nucleotides among human genomes. Here we describe an integrated set of eight structural …
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 …
The Mobile Element Locator Tool (MELT): population-scale mobile element discovery and biology
Mobile element insertions (MEIs) represent∼ 25% of all structural variants in human
genomes. Moreover, when they disrupt genes, MEIs can influence human traits and …
genomes. Moreover, when they disrupt genes, MEIs can influence human traits and …
Resolving the complexity of the human genome using single-molecule sequencing
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 …
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 …
term genome and transcriptome evolution;(b) genomic, transcriptomic and epigenetic …
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 …
[HTML][HTML] Personal omics profiling reveals dynamic molecular and medical phenotypes
Personalized medicine is expected to benefit from combining genomic information with
regular monitoring of physiological states by multiple high-throughput methods. Here, we …
regular monitoring of physiological states by multiple high-throughput methods. Here, we …