Abstract:
BACKGROUND:Analysis of somatic mutations provides insight into the mutational processes that have shaped the cancer genome, but such analysis currently requires large cohorts. We develop deconstructSigs, which allows the identification of mutational signatures within a single tumor sample. RESULTS:Application of deconstructSigs identifies samples with DNA repair deficiencies and reveals distinct and dynamic mutational processes molding the cancer genome in esophageal adenocarcinoma compared to squamous cell carcinomas. CONCLUSIONS:deconstructSigs confers the ability to define mutational processes driven by environmental exposures, DNA repair abnormalities, and mutagenic processes in individual tumors with implications for precision cancer medicine.
journal_name
Genome Bioljournal_title
Genome biologyauthors
Rosenthal R,McGranahan N,Herrero J,Taylor BS,Swanton Cdoi
10.1186/s13059-016-0893-4subject
Has Abstractpub_date
2016-02-22 00:00:00pages
31eissn
1474-7596issn
1474-760Xpii
10.1186/s13059-016-0893-4journal_volume
17pub_type
杂志文章相关文献
GENOME BIOLOGY文献大全abstract:BACKGROUND:Concepts of orthology and paralogy are become increasingly important as whole-genome comparison allows their identification in complete genomes. Functional specificity of proteins is assumed to be conserved among orthologs and is different among paralogs. We used this assumption to identify residues which de...
journal_title:Genome biology
pub_type: 杂志文章
doi:10.1186/gb-2002-3-3-preprint0002
更新日期:2002-01-01 00:00:00
abstract::DNA shuffling has proven to be a powerful technique for the directed evolution of proteins. A mix of theoretical and applied research has now provided insights into how recombination can be guided to more efficiently generate proteins and even organisms with altered functions. ...
journal_title:Genome biology
pub_type: 杂志文章,评审
doi:10.1186/gb-2002-3-8-reviews1021
更新日期:2002-07-31 00:00:00
abstract:BACKGROUND:Dictyostelium discoideum is a eukaryote with a simple lifestyle and a relatively small genome whose sequence has been fully determined. It is widely used for studies on cell signaling, movement and multicellular development. Ras guanine-nucleotide exchange factors (RasGEFs) are the proteins that activate Ras...
journal_title:Genome biology
pub_type: 杂志文章
doi:10.1186/gb-2005-6-8-r68
更新日期:2005-01-01 00:00:00
abstract:BACKGROUND:Targeted deep sequencing is increasingly used to detect low-allelic fraction variants; it is therefore essential that errors that constitute baseline noise and impose a practical limit on detection are characterized. In the present study, we systematically evaluate the extent to which errors are incurred dur...
journal_title:Genome biology
pub_type: 杂志文章
doi:10.1186/s13059-017-1275-2
更新日期:2017-07-21 00:00:00
abstract:BACKGROUND:The functional impact of genetic variation has been extensively surveyed, revealing that genetic changes correlated to phenotypes lie mostly in non-coding genomic regions. Studies have linked allele-specific genetic changes to gene expression, DNA methylation, and histone marks but these investigations have ...
journal_title:Genome biology
pub_type: 杂志文章
doi:10.1186/s13059-017-1173-7
更新日期:2017-03-10 00:00:00
abstract:BACKGROUND:Transposable elements (TEs) are major components of large plant genomes and main drivers of genome evolution. The most recent assembly of hexaploid bread wheat recovered the highly repetitive TE space in an almost complete chromosomal context and enabled a detailed view into the dynamics of TEs in the A, B, ...
journal_title:Genome biology
pub_type: 杂志文章
doi:10.1186/s13059-018-1479-0
更新日期:2018-08-17 00:00:00
abstract:BACKGROUND:DNA methylation and the Polycomb repression system are epigenetic mechanisms that play important roles in maintaining transcriptional repression. Recent evidence suggests that DNA methylation can attenuate the binding of Polycomb protein components to chromatin and thus plays a role in determining their geno...
journal_title:Genome biology
pub_type: 杂志文章
doi:10.1186/gb-2013-14-3-r25
更新日期:2013-03-25 00:00:00
abstract::Single-cell transcriptomics requires a method that is sensitive, accurate, and reproducible. Here, we present CEL-Seq2, a modified version of our CEL-Seq method, with threefold higher sensitivity, lower costs, and less hands-on time. We implemented CEL-Seq2 on Fluidigm's C1 system, providing its first single-cell, on-...
journal_title:Genome biology
pub_type: 杂志文章
doi:10.1186/s13059-016-0938-8
更新日期:2016-04-28 00:00:00
abstract:BACKGROUND:Despite the biological and economic significance of scleractinian reef-building corals, the lack of large molecular datasets for a representative range of species limits understanding of many aspects of their biology. Within the Scleractinia, based on molecular evidence, it is generally recognised that there...
journal_title:Genome biology
pub_type: 杂志文章
doi:10.1186/s13059-018-1552-8
更新日期:2018-11-02 00:00:00
abstract::Vascular endothelia comprise a diverse population of cells that specialize in response to genetic programs and environmental cues to take on distinct roles in different vessels, tissues, and organs, and in response to pathophysiological stresses. Characterization of endothelial-cell diversity will facilitate the devel...
journal_title:Genome biology
pub_type: 杂志文章,评审
doi:10.1186/gb-2004-5-2-207
更新日期:2004-01-01 00:00:00
abstract:BACKGROUND:Long noncoding RNAs (lncRNAs) form an abundant class of transcripts, but the function of the majority of them remains elusive. While it has been shown that some lncRNAs are bound by ribosomes, it has also been convincingly demonstrated that these transcripts do not code for proteins. To obtain a comprehensiv...
journal_title:Genome biology
pub_type: 杂志文章
doi:10.1186/gb-2014-15-1-r6
更新日期:2014-01-07 00:00:00
abstract:BACKGROUND:The embryo sac contains the haploid maternal cell types necessary for double fertilization and subsequent seed development in plants. Large-scale identification of genes expressed in the embryo sac remains cumbersome because of its inherent microscopic and inaccessible nature. We used genetic subtraction and...
journal_title:Genome biology
pub_type: 杂志文章
doi:10.1186/gb-2007-8-10-r204
更新日期:2007-01-01 00:00:00
abstract:BACKGROUND:Polyploidy is ubiquitous in eukaryotic plant and fungal lineages, and it leads to the co-existence of several copies of similar or related genomes in one nucleus. In plants, polyploidy is considered a major factor in successful domestication. However, polyploidy challenges chromosome folding architecture in ...
journal_title:Genome biology
pub_type: 杂志文章
doi:10.1186/s13059-020-01998-1
更新日期:2020-04-29 00:00:00
abstract::We describe a bioinformatic tool, Tumor Aberration Prediction Suite (TAPS), for the identification of allele-specific copy numbers in tumor samples using data from Affymetrix SNP arrays. It includes detailed visualization of genomic segment characteristics and iterative pattern recognition for copy number identificati...
journal_title:Genome biology
pub_type: 杂志文章
doi:10.1186/gb-2011-12-10-r108
更新日期:2011-10-24 00:00:00
abstract::Reliable orthology prediction is central to comparative genomics. Although orthology is defined by phylogenetic criteria, most automated prediction methods are based on pairwise sequence comparisons. Recently, automated phylogeny-based orthology prediction has emerged as a feasible alternative for genome-wide studies....
journal_title:Genome biology
pub_type: 杂志文章,评审
doi:10.1186/gb-2008-9-10-235
更新日期:2008-10-30 00:00:00
abstract::Searching for similarities between biological sequences is the principal means by which bioinformatics contributes to our understanding of biology. Of the various informatics tools developed to accomplish this task, the most widely used is BLAST, the basic local alignment search tool. This article discusses the princi...
journal_title:Genome biology
pub_type: 杂志文章
doi:10.1186/gb-2001-2-10-reviews2002
更新日期:2001-01-01 00:00:00
abstract:BACKGROUND:The current bovine genomic reference sequence was assembled from a Hereford cow. The resulting linear assembly lacks diversity because it does not contain allelic variation, a drawback of linear references that causes reference allele bias. High nucleotide diversity and the separation of individuals by hundr...
journal_title:Genome biology
pub_type: 杂志文章
doi:10.1186/s13059-020-02105-0
更新日期:2020-07-27 00:00:00
abstract::Stochastic changes in DNA methylation (i.e., spontaneous epimutations) contribute to methylome diversity in plants. Here, we describe AlphaBeta, a computational method for estimating the precise rate of such stochastic events using pedigree-based DNA methylation data as input. We demonstrate how AlphaBeta can be emplo...
journal_title:Genome biology
pub_type: 杂志文章
doi:10.1186/s13059-020-02161-6
更新日期:2020-10-06 00:00:00
abstract:BACKGROUND:DNase-seq and ATAC-seq are broadly used methods to assay open chromatin regions genome-wide. The single nucleotide resolution of DNase-seq has been further exploited to infer transcription factor binding sites (TFBSs) in regulatory regions through footprinting. Recent studies have demonstrated the sequence b...
journal_title:Genome biology
pub_type: 杂志文章
doi:10.1186/s13059-019-1654-y
更新日期:2019-02-21 00:00:00
abstract:BACKGROUND:The transcriptional activation of HoxD genes during mammalian limb development involves dynamic interactions with two topologically associating domains (TADs) flanking the HoxD cluster. In particular, the activation of the most posterior HoxD genes in developing digits is controlled by regulatory elements lo...
journal_title:Genome biology
pub_type: 杂志文章
doi:10.1186/s13059-017-1278-z
更新日期:2017-08-07 00:00:00
abstract::Purification of proteins cross-linked to mRNAs has identified 800 mRNA-binding proteins and their characteristics. ...
journal_title:Genome biology
pub_type:
doi:10.1186/gb4030
更新日期:2012-07-17 00:00:00
abstract:BACKGROUND:The forkhead transcription factor FOXM1 is a key regulator of the cell cycle. It is frequently over-expressed in cancer and is emerging as an important therapeutic target. In breast cancer FOXM1 expression is linked with estrogen receptor (ERα) activity and resistance to endocrine therapies, with high levels...
journal_title:Genome biology
pub_type: 杂志文章
doi:10.1186/gb-2013-14-1-r6
更新日期:2013-01-24 00:00:00
abstract:BACKGROUND:Trypanosoma brucei is the causative agent of human sleeping sickness and animal trypanosomiasis in sub-Saharan Africa, and it has been subdivided into three subspecies: Trypanosoma brucei gambiense and Trypanosoma brucei rhodesiense, which cause sleeping sickness in humans, and the nonhuman infective Trypano...
journal_title:Genome biology
pub_type: 杂志文章
doi:10.1186/gb-2008-9-6-r103
更新日期:2008-01-01 00:00:00
abstract:BACKGROUND:Variants of microRNAs (miRNAs), called isomiRs, are commonly reported in deep-sequencing studies; however, the functional significance of these variants remains controversial. Observational studies show that isomiR patterns are non-random, hinting that these molecules could be regulated and therefore functio...
journal_title:Genome biology
pub_type: 杂志文章
doi:10.1186/gb-2011-12-12-r126
更新日期:2011-12-30 00:00:00
abstract::A report on the Epigenetic Engineering Meeting hosted by the Barts Institute of Cancer, held in London, UK, May 7, 2014. ...
journal_title:Genome biology
pub_type:
doi:10.1186/gb4179
更新日期:2014-01-01 00:00:00
abstract::Abhay Sharma brings two arguments in favor of transgenerational epigenetic inheritance (TGEI) in mammals when criticizing our work. He uses probability calculations and finds that the probability of obtaining the number of common changes in the in utero-exposed prospermatogonia and the same cells in the next generatio...
journal_title:Genome biology
pub_type: 评论,信件
doi:10.1186/s13059-016-0978-0
更新日期:2016-05-16 00:00:00
abstract::The protein folding game Foldit shows that games are an effective way to recruit, engage and organize ordinary citizens to help solve difficult scientific problems. ...
journal_title:Genome biology
pub_type: 杂志文章
doi:10.1186/gb-2011-12-12-135
更新日期:2011-12-28 00:00:00
abstract::Large-scale biology among plant species, as well as comparative genomics of circadian clock architecture and clock-regulated output processes, have greatly advanced our understanding of the endogenous timing system in plants. ...
journal_title:Genome biology
pub_type: 杂志文章,评审
doi:10.1186/gb-2013-14-6-208
更新日期:2013-06-24 00:00:00
abstract:UNLABELLED:Ancient DNA is typically highly degraded with appreciable cytosine deamination, and contamination with present-day DNA often complicates the identification of endogenous molecules. Together, these factors impede accurate assembly of the endogenous ancient mitochondrial genome. We present schmutzi, an iterati...
journal_title:Genome biology
pub_type: 杂志文章
doi:10.1186/s13059-015-0776-0
更新日期:2015-10-12 00:00:00
abstract:BACKGROUND:Retroviral elements are pervasively transcribed and dynamically regulated during development. While multiple histone- and DNA-modifying enzymes have broadly been associated with their global silencing, little is known about how the many diverse retroviral families are each selectively recognized. RESULTS:He...
journal_title:Genome biology
pub_type: 杂志文章
doi:10.1186/gb-2014-15-4-r58
更新日期:2014-04-30 00:00:00