解剖学和形态学
麻醉学
听力与言语-语言病理学
行为科学
心脏和心血管系统
细胞和组织工程学
临床神经病学
危重症监护医学
牙科,口腔外科和医学
皮肤病学
急诊医学
内分泌学和新陈代谢
肠胃学和肝脏学
老人病学和老年医学
卫生保健科学和服务
血液学
免疫学
传染病
综合和补充性医学
医学伦理学
医学信息学
医学实验室技术
医学,全科和内科
医学,法律
医学,研究和试验
神经系统科学
护理
营养学和饮食学
产科医学和妇科医学
肿瘤学
眼科学
整形外科学
耳鼻喉科学
病理学
儿科学
周围血管疾病
药理学和药剂学
生理学
基本医疗保健
精神病学
公共、环境和职业卫生
放射学,核医学和医学成像
康复学
生殖生物学
呼吸系统
风湿病学
运动科学
外科学
毒理学
热带医学
泌尿学和肾脏学
病毒学
老年医学
健康政策和服务
心理学,临床
abstract::MicroRNAs (miRNAs) are known to post-transcriptionally regulate target mRNAs through the 3'-UTR, which interacts mainly with the 5'-end of miRNA in animals. Here we identify many endogenous motifs within human 5'-UTRs specific to the 3'-ends of miRNAs. The 3'-end of conserved miRNAs in particular has significant inter...
journal_title:Genome research
pub_type: 杂志文章
doi:10.1101/gr.089367.108
更新日期:2009-07-01 00:00:00
abstract::Sequence-specific DNA-binding transcription factors have widespread biological significance in the regulation of gene expression. However, in lower prokaryotes and eukaryotic metazoans, it is usually difficult to find transcription regulatory factors that recognize specific target promoters. To address this, we have d...
journal_title:Genome research
pub_type: 杂志文章
doi:10.1101/gr.086595.108
更新日期:2009-07-01 00:00:00
abstract::Recent studies have revealed that insertions and deletions (indels) are more different in their formation than previously assumed. What remains enigmatic is how the local DNA sequence context contributes to these differences. To investigate the relative impact of various molecular mechanisms to indel formation, we ana...
journal_title:Genome research
pub_type: 杂志文章
doi:10.1101/gr.088922.108
更新日期:2009-07-01 00:00:00
abstract::The next-generation sequencing technology coupled with the growing number of genome sequences opens the opportunity to redesign genotyping strategies for more effective genetic mapping and genome analysis. We have developed a high-throughput method for genotyping recombinant populations utilizing whole-genome resequen...
journal_title:Genome research
pub_type: 杂志文章
doi:10.1101/gr.089516.108
更新日期:2009-06-01 00:00:00
abstract::Human genomic data of many types are readily available, but the complexity and scale of human molecular biology make it difficult to integrate this body of data, understand it from a systems level, and apply it to the study of specific pathways or genetic disorders. An investigator could best explore a particular prot...
journal_title:Genome research
pub_type: 杂志文章
doi:10.1101/gr.082214.108
更新日期:2009-06-01 00:00:00
abstract::In Drosophila melanogaster, there is an excess of genes duplicated by retroposition from the X chromosome to the autosomes. Most of those retrogenes that originated on the X chromosome have testis expression pattern. These observations could be explained by natural selection favoring genes that avoided spermatogenesis...
journal_title:Genome research
pub_type: 杂志文章
doi:10.1101/gr.088609.108
更新日期:2009-05-01 00:00:00
abstract::Natural killer (NK) cells contribute to the essential functions of innate immunity and reproduction. Various genes encode NK cell receptors that recognize the major histocompatibility complex (MHC) Class I molecules expressed by other cells. For primate NK cells, the killer-cell immunoglobulin-like receptors (KIR) are...
journal_title:Genome research
pub_type: 杂志文章
doi:10.1101/gr.085738.108
更新日期:2009-05-01 00:00:00
abstract::Chromosomal aberrations have been thought to be random events. However, recent findings introduce a new paradigm in which certain DNA segments have the potential to adopt unusual conformations that lead to genomic instability and nonrandom chromosomal rearrangement. One of the best-studied examples is the palindromic ...
journal_title:Genome research
pub_type: 杂志文章
doi:10.1101/gr.079244.108
更新日期:2009-02-01 00:00:00
abstract::In mammals, genome-wide chromatin maps and immunofluorescence studies show that broad domains of repressive histone modifications are present on pericentromeric and telomeric repeats and on the inactive X chromosome. However, only a few autosomal loci such as silent Hox gene clusters have been shown to lie in broad do...
journal_title:Genome research
pub_type: 杂志文章
doi:10.1101/gr.080861.108
更新日期:2009-02-01 00:00:00
abstract::We present GERMLINE, a robust algorithm for identifying segmental sharing indicative of recent common ancestry between pairs of individuals. Unlike methods with comparable objectives, GERMLINE scales linearly with the number of samples, enabling analysis of whole-genome data in large cohorts. Our approach is based on ...
journal_title:Genome research
pub_type: 杂志文章
doi:10.1101/gr.081398.108
更新日期:2009-02-01 00:00:00
abstract::Tissue development and function are exquisitely dependent on proper regulation of gene expression, but it remains controversial whether the genomic signals controlling this process are subject to strong selective constraint. While some studies show that highly constrained noncoding regions act to enhance transcription...
journal_title:Genome research
pub_type: 杂志文章
doi:10.1101/gr.083089.108
更新日期:2008-12-01 00:00:00
abstract::Isochromosome 17q, or i(17q), is one of the most frequent nonrandom changes occurring in human neoplasia. Most of the i(17q) breakpoints cluster within a approximately 240-kb interval located in the Smith-Magenis syndrome common deletion region in 17p11.2. The breakpoint cluster region is characterized by a complex ar...
journal_title:Genome research
pub_type: 杂志文章
doi:10.1101/gr.080697.108
更新日期:2008-11-01 00:00:00
abstract::Microsatellites are abundant in vertebrate genomes, but their sequence representation and length distributions vary greatly within each family of repeats (e.g., tetranucleotides). Biophysical studies of 82 synthetic single-stranded oligonucleotides comprising all tetra- and trinucleotide repeats revealed an inverse co...
journal_title:Genome research
pub_type: 杂志文章
doi:10.1101/gr.078303.108
更新日期:2008-10-01 00:00:00
abstract::In plants there are several classes of 21-24-nt short RNAs that regulate gene expression. The most conserved class is the microRNAs (miRNAs), although some miRNAs are found only in specific species. We used high-throughput pyrosequencing to identify conserved and nonconserved miRNAs and other short RNAs in tomato frui...
journal_title:Genome research
pub_type: 杂志文章
doi:10.1101/gr.080127.108
更新日期:2008-10-01 00:00:00
abstract::Alternative splicing (AS) creates multiple mRNA transcripts from a single gene. While AS is known to contribute to gene regulation and proteome diversity in animals, the study of its importance in plants is in its early stages. However, recently available plant genome and transcript sequence data sets are enabling a g...
journal_title:Genome research
pub_type: 杂志文章,评审
doi:10.1101/gr.053678.106
更新日期:2008-09-01 00:00:00
abstract::Genomic imprinting is a developmentally important mechanism that involves both differential DNA methylation and allelic histone modifications. Through detailed comparative characterization, a large imprinted domain mapping to chromosome 7q21 in humans and proximal chromosome 6 in mice was redefined. This domain is org...
journal_title:Genome research
pub_type: 杂志文章
doi:10.1101/gr.077115.108
更新日期:2008-08-01 00:00:00
abstract::In comparison to genotypes, knowledge about haplotypes (the combination of alleles present on a single chromosome) is much more useful for whole-genome association studies and for making inferences about human evolutionary history. Haplotypes are typically inferred from population genotype data using computational met...
journal_title:Genome research
pub_type: 杂志文章
doi:10.1101/gr.077065.108
更新日期:2008-08-01 00:00:00
abstract::Since complete redundancy between extant duplicates (paralogs) is evolutionarily unfavorable, some degree of functional congruency is eventually lost. However, in budding yeast, experimental evidence collected for duplicated metabolic enzymes and in global physical interaction surveys had suggested widespread function...
journal_title:Genome research
pub_type: 杂志文章
doi:10.1101/gr.076174.108
更新日期:2008-07-01 00:00:00
abstract::Human chromosomal regions enriched in segmental duplications are subject to extensive genomic reorganization. Such regions are particularly informative for illuminating the evolutionary history of a given chromosome. We have analyzed 866 kb of Y-chromosomal non-palindromic segmental duplications delineating four euchr...
journal_title:Genome research
pub_type: 杂志文章
doi:10.1101/gr.076711.108
更新日期:2008-07-01 00:00:00
abstract::Cephalochordates, urochordates, and vertebrates evolved from a common ancestor over 520 million years ago. To improve our understanding of chordate evolution and the origin of vertebrates, we intensively searched for particular genes, gene families, and conserved noncoding elements in the sequenced genome of the cepha...
journal_title:Genome research
pub_type: 杂志文章
doi:10.1101/gr.073676.107
更新日期:2008-07-01 00:00:00
abstract::It is critical to avoid delays in detecting strain manipulations, such as the addition/deletion of a gene or modification of genes for increased virulence or antibiotic resistance, using genome analysis during an epidemic outbreak or a bioterrorist attack. Our objective was to evaluate the efficiency of genome analysi...
journal_title:Genome research
pub_type: 杂志文章
doi:10.1101/gr.071266.107
更新日期:2008-05-01 00:00:00
abstract::DNA transposons, or class 2 transposable elements, have successfully propagated in a wide variety of genomes. However, it is widely believed that DNA transposon activity has ceased in mammalian genomes for at least the last 40 million years. We recently reported evidence for the relatively recent activity of hAT and H...
journal_title:Genome research
pub_type: 杂志文章
doi:10.1101/gr.071886.107
更新日期:2008-05-01 00:00:00
abstract::Large copy number variants (CNVs) have been recently found as structural polymorphisms of the human genome of still unknown biological significance. CNVs are significantly enriched in regions with segmental duplications or low-copy repeats (LCRs). Williams-Beuren syndrome (WBS) is a neurodevelopmental disorder caused ...
journal_title:Genome research
pub_type: 杂志文章
doi:10.1101/gr.073197.107
更新日期:2008-05-01 00:00:00
abstract::A large number of cis-regulatory motifs involved in transcriptional control have been identified, but the regulatory context and biological processes in which many of them function are unknown. Here, we computationally identify the sets of human core promoters targeted by motifs, and systematically characterize their ...
journal_title:Genome research
pub_type: 杂志文章
doi:10.1101/gr.6828808
更新日期:2008-03-01 00:00:00
abstract::Lemurs and the other strepsirrhine primates are of great interest to the primate genomics community due to their phylogenetic placement as the sister lineage to all other primates. Previous attempts to resolve the phylogeny of lemurs employed limited mitochondrial or small nuclear data sets, with many relationships po...
journal_title:Genome research
pub_type: 杂志文章
doi:10.1101/gr.7265208
更新日期:2008-03-01 00:00:00
abstract::Recent accumulation of microbial genome data has demonstrated that lateral gene transfers constitute an important and universal evolutionary process in prokaryotes, while those in multicellular eukaryotes are still regarded as unusual, except for endosymbiotic gene transfers from mitochondria and plastids. Here we tho...
journal_title:Genome research
pub_type: 杂志文章
doi:10.1101/gr.7144908
更新日期:2008-02-01 00:00:00
abstract::Obesity is reaching epidemic proportions in developed countries and represents a significant risk factor for hypertension, heart disease, diabetes, and dyslipidemia. Splicing mutations constitute at least 14% of disease-causing mutations, thus implicating polymorphisms that affect splicing as likely candidates for dis...
journal_title:Genome research
pub_type: 杂志文章
doi:10.1101/gr.6661308
更新日期:2008-02-01 00:00:00
abstract::It is widely accepted that newly arisen duplicate gene pairs experience an altered selective regime that is often manifested as an increase in the rate of protein sequence evolution. Many details about the nature of the rate acceleration remain unknown, however, including its typical magnitude and duration, and whethe...
journal_title:Genome research
pub_type: 杂志文章
doi:10.1101/gr.6341207
更新日期:2008-01-01 00:00:00
abstract::Mutation rates of microsatellites vary greatly among loci. The causes of this heterogeneity remain largely enigmatic yet are crucial for understanding numerous human neurological diseases and genetic instability in cancer. In this first genome-wide study, the relative contributions of intrinsic features and regional g...
journal_title:Genome research
pub_type: 杂志文章
doi:10.1101/gr.7113408
更新日期:2008-01-01 00:00:00
abstract::Facio-scapulo-humeral dystrophy (FSHD), a muscular hereditary disease with a prevalence of 1 in 20,000, is caused by a partial deletion of a subtelomeric repeat array on chromosome 4q. Earlier, we demonstrated the existence in the vicinity of the D4Z4 repeat of a nuclear matrix attachment site, FR-MAR, efficient in no...
journal_title:Genome research
pub_type: 杂志文章
doi:10.1101/gr.6620908
更新日期:2008-01-01 00:00:00
abstract::Disregulation of imprinted genes can be associated with tumorigenesis and altered cell differentiation capacity and so could provide adverse outcomes for stem cell applications. Although the maintenance of mouse and primate embryonic stem cells in a pluripotent state has been reported to disrupt the monoallelic expres...
journal_title:Genome research
pub_type: 杂志文章
doi:10.1101/gr.6609207
更新日期:2007-12-01 00:00:00
abstract::Comparative genomics provides a general methodology for discovering functional DNA elements and understanding their evolution. The availability of many related genomes enables more powerful analyses, but requires rigorous phylogenetic methods to resolve orthologous genes and regions. Here, we use 12 recently sequenced...
journal_title:Genome research
pub_type: 杂志文章
doi:10.1101/gr.7105007
更新日期:2007-12-01 00:00:00
abstract::By surveying a filtered, high-quality set of SNPs in the human genome, we have found that SNPs positioned 1, 2, 4, 6, or 8 bp apart are more frequent than SNPs positioned 3, 5, 7, or 9 bp apart. The observed pattern is not restricted to genomic regions that are known to cause sequencing or alignment errors, for exampl...
journal_title:Genome research
pub_type: 杂志文章
doi:10.1101/gr.6223207
更新日期:2007-10-01 00:00:00
abstract::The current Caenorhabditis elegans genomic annotation has many genes organized in operons. Using directionally stitched promoterGFP methodology, we have conducted the largest survey to date on the regulatory regions of annotated C. elegans operons and identified 65, over 25% of those studied, with internal promoters. ...
journal_title:Genome research
pub_type: 杂志文章
doi:10.1101/gr.6824707
更新日期:2007-10-01 00:00:00
abstract::Evolutionary constraints on gene regulatory elements are poorly understood: Little is known about how the strength of transcription factor binding correlates with DNA sequence conservation, and whether transcription factor binding sites can evolve rapidly while retaining their function. Here we use the model of the NF...
journal_title:Genome research
pub_type: 杂志文章
doi:10.1101/gr.6490707
更新日期:2007-09-01 00:00:00
abstract::Most new genes arise by duplication of existing gene structures, after which relaxed selection on the new copy frequently leads to mutational inactivation of the duplicate; only rarely will a new gene with modified function emerge. Here we describe a unique mechanism of gene creation, whereby new combinations of funct...
journal_title:Genome research
pub_type: 杂志文章
doi:10.1101/gr.6252107
更新日期:2007-08-01 00:00:00
abstract::The use of high-density oligonucleotide arrays to measure the expression levels of thousands of genes in parallel has become commonplace. To take further advantage of the growing body of data, we developed a method, termed "GeSNP," to mine the detailed hybridization patterns in oligonucleotide array expression data fo...
journal_title:Genome research
pub_type: 杂志文章
doi:10.1101/gr.6307307
更新日期:2007-08-01 00:00:00
abstract::The newly sequenced genome of Monodelphis domestica not only provides the out-group necessary to better understand our own eutherian lineage, but it enables insights into the innovative biology of metatherians. Here, we compare Monodelphis with Homo sequences from alignments of single nucleotides, genes, and whole chr...
journal_title:Genome research
pub_type: 杂志文章
doi:10.1101/gr.6093907
更新日期:2007-07-01 00:00:00
abstract::We generated high-resolution maps of histone H3 lysine 9/14 acetylation (H3ac), histone H4 lysine 5/8/12/16 acetylation (H4ac), and histone H3 at lysine 4 mono-, di-, and trimethylation (H3K4me1, H3K4me2, H3K4me3, respectively) across the ENCODE regions. Studying each modification in five human cell lines including th...
journal_title:Genome research
pub_type: 杂志文章
doi:10.1101/gr.5704207
更新日期:2007-06-01 00:00:00
abstract::Bidirectional promoters have received considerable attention because of their ability to regulate two downstream genes (divergent genes). They are also highly abundant, directing the transcription of approximately 11% of genes in the human genome. We categorized the presence of DNA sequence motifs, binding of transcri...
journal_title:Genome research
pub_type: 杂志文章
doi:10.1101/gr.5623407
更新日期:2007-06-01 00:00:00