[HTML][HTML] Classical nuclear localization signals: definition, function, and interaction with importin α
The best understood system for the transport of macromolecules between the cytoplasm and
the nucleus is the classical nuclear import pathway. In this pathway, a protein containing a …
the nucleus is the classical nuclear import pathway. In this pathway, a protein containing a …
Which transposable elements are active in the human genome?
Although a large proportion (44%) of the human genome is occupied by transposons and
transposon-like repetitive elements, only a small proportion (<0.05%) of these elements …
transposon-like repetitive elements, only a small proportion (<0.05%) of these elements …
Small insertions and deletions (INDELs) in human genomes
In this review, we focus on progress that has been made with detecting small insertions and
deletions (INDELs) in human genomes. Over the past decade, several million small INDELs …
deletions (INDELs) in human genomes. Over the past decade, several million small INDELs …
[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 …
An initial map of insertion and deletion (INDEL) variation in the human genome
…, A Beauchamp, C Tsui, WS Pittard, SE Devine - Genome …, 2006 - genome.cshlp.org
Although many studies have been conducted to identify single nucleotide polymorphisms (SNPs)
in humans, few studies have been conducted to identify alternative forms of natural …
in humans, few studies have been conducted to identify alternative forms of natural …
Haplotype-resolved diverse human genomes and integrated analysis of structural variation
INTRODUCTION The characterization of the full spectrum of genetic variation is critical to
understanding human health and disease. Recent technological advances have made it …
understanding human health and disease. Recent technological advances have made it …
The SIR2 gene family, conserved from bacteria to humans, functions in silencing, cell cycle progression, and chromosome stability.
CB Brachmann, JM Sherman, SE Devine… - Genes & …, 1995 - genesdev.cshlp.org
… The HST-encoded proteins exhibit both remarkable se… this sequence at its amino terminus,
guided by similarities to the human sequence. The partial H. sapiens homolog (HsSIR2) se…
guided by similarities to the human sequence. The partial H. sapiens homolog (HsSIR2) se…
[PDF][PDF] High-coverage whole-genome sequencing of the expanded 1000 Genomes Project cohort including 602 trios
The 1000 Genomes Project (1kGP) is the largest fully open resource of whole-genome
sequencing (WGS) data consented for public distribution without access or use restrictions. The …
sequencing (WGS) data consented for public distribution without access or use restrictions. The …
[HTML][HTML] Multi-platform discovery of haplotype-resolved structural variation in human genomes
The incomplete identification of structural variants (SVs) from whole-genome sequencing
data limits studies of human genetic diversity and disease association. Here, we apply a suite …
data limits studies of human genetic diversity and disease association. Here, we apply a suite …
[HTML][HTML] Natural mutagenesis of human genomes by endogenous retrotransposons
…, AF Neuwald, EG Van Meir, PM Vertino, SE Devine - Cell, 2010 - cell.com
Two abundant classes of mobile elements, namely Alu and L1 elements, continue to
generate new retrotransposon insertions in human genomes. Estimates suggest that these …
generate new retrotransposon insertions in human genomes. Estimates suggest that these …