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::Low-coverage whole-genome sequencing followed by imputation has been proposed as a cost-effective genotyping approach for disease and population genetics studies. However, its competitiveness against SNP arrays is undermined because current imputation methods are computationally expensive and unable to leverage large ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/s41588-020-00756-0
更新日期:2021-01-01 00:00:00
abstract::The genetic elements required to tune gene expression are partitioned in active and repressive nuclear condensates. Chromatin compartments include transcriptional clusters whose dynamic establishment and functioning depend on multivalent interactions occurring among transcription factors, cofactors and basal transcrip...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/s41588-020-00724-8
更新日期:2020-12-01 00:00:00
abstract::Genetic studies of blood pressure (BP) to date have mainly analyzed common variants (minor allele frequency > 0.05). In a meta-analysis of up to ~1.3 million participants, we discovered 106 new BP-associated genomic regions and 87 rare (minor allele frequency ≤ 0.01) variant BP associations (P < 5 × 10-8), of which 32...
journal_title:Nature genetics
pub_type: 杂志文章,meta分析
doi:10.1038/s41588-020-00713-x
更新日期:2020-12-01 00:00:00
abstract::An amendment to this paper has been published and can be accessed via a link at the top of the paper. ...
journal_title:Nature genetics
pub_type: 已发布勘误
doi:10.1038/s41588-020-00711-z
更新日期:2020-11-01 00:00:00
abstract::Potato (Solanum tuberosum L.) is the most important tuber crop worldwide. Efforts are underway to transform the crop from a clonally propagated tetraploid into a seed-propagated, inbred-line-based hybrid, but this process requires a better understanding of potato genome. Here, we report the 1.67-Gb haplotype-resolved ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/s41588-020-0699-x
更新日期:2020-10-01 00:00:00
abstract::Distal enhancers play pivotal roles in development and disease yet remain one of the least understood regulatory elements. We used massively parallel reporter assays to perform functional comparisons of two leading enhancer models and find that gene-distal transcription start sites are robust predictors of active enha...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/s41588-020-0686-2
更新日期:2020-10-01 00:00:00
abstract::The human genome can be segmented into topologically associating domains (TADs), which have been proposed to spatially sequester genes and regulatory elements through chromatin looping. Interactions between TADs have also been suggested, presumably because of variable boundary positions across individual cells. Howeve...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/s41588-020-0647-9
更新日期:2020-08-01 00:00:00
abstract::Cas9 is commonly introduced into cell lines to enable CRISPR-Cas9-mediated genome editing. Here, we studied the genetic and transcriptional consequences of Cas9 expression itself. Gene expression profiling of 165 pairs of human cancer cell lines and their Cas9-expressing derivatives revealed upregulation of the p53 pa...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/s41588-020-0623-4
更新日期:2020-07-01 00:00:00
abstract::Immunotherapy for metastatic colorectal cancer is effective only for mismatch repair-deficient tumors with high microsatellite instability that demonstrate immune infiltration, suggesting that tumor cells can determine their immune microenvironment. To understand this cross-talk, we analyzed the transcriptome of 91,10...
journal_title:Nature genetics
pub_type: 杂志文章,多中心研究
doi:10.1038/s41588-020-0636-z
更新日期:2020-06-01 00:00:00
abstract::In metastatic cancer, the degree of heterogeneity of the tumor microenvironment (TME) and its molecular underpinnings remain largely unstudied. To characterize the tumor-immune interface at baseline and during neoadjuvant chemotherapy (NACT) in high-grade serous ovarian cancer (HGSOC), we performed immunogenomic analy...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/s41588-020-0630-5
更新日期:2020-06-01 00:00:00
abstract::Differences in three-dimensional (3D) chromatin architecture can influence the integrity of topologically associating domains (TADs) and rewire specific enhancer-promoter interactions, impacting gene expression and leading to human disease. Here we investigate the 3D chromatin architecture in T cell acute lymphoblasti...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/s41588-020-0602-9
更新日期:2020-04-01 00:00:00
abstract::An amendment to this paper has been published and can be accessed via a link at the top of the paper. ...
journal_title:Nature genetics
pub_type: 已发布勘误
doi:10.1038/s41588-020-0588-3
更新日期:2020-04-01 00:00:00
abstract::Somatic alterations in cancer genes are being detected in normal and premalignant tissue, thus placing greater emphasis on gene-environment interactions that enable disease phenotypes. By combining early genetic alterations with disease-relevant exposures, we developed an integrative mouse model to study gastric prema...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/s41588-019-0574-9
更新日期:2020-02-01 00:00:00
abstract::Volumetric variations of the human brain are heritable and are associated with many brain-related complex traits. Here we performed genome-wide association studies (GWAS) of 101 brain volumetric phenotypes using the UK Biobank sample including 19,629 participants. GWAS identified 365 independent genetic variants excee...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/s41588-019-0516-6
更新日期:2019-11-01 00:00:00
abstract::Bread wheat improvement using genomic tools is essential for accelerating trait genetic gains. Here we report the genomic predictabilities of 35 key traits and demonstrate the potential of genomic selection for wheat end-use quality. We also performed a large genome-wide association study that identified several signi...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/s41588-019-0496-6
更新日期:2019-10-01 00:00:00
abstract::We report the first annotated chromosome-level reference genome assembly for pea, Gregor Mendel's original genetic model. Phylogenetics and paleogenomics show genomic rearrangements across legumes and suggest a major role for repetitive elements in pea genome evolution. Compared to other sequenced Leguminosae genomes,...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/s41588-019-0480-1
更新日期:2019-09-01 00:00:00
abstract::Noncoding repeat expansions cause various neuromuscular diseases, including myotonic dystrophies, fragile X tremor/ataxia syndrome, some spinocerebellar ataxias, amyotrophic lateral sclerosis and benign adult familial myoclonic epilepsies. Inspired by the striking similarities in the clinical and neuroimaging findings...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/s41588-019-0458-z
更新日期:2019-08-01 00:00:00
abstract::An amendment to this paper has been published and can be accessed via a link at the top of the paper. ...
journal_title:Nature genetics
pub_type: 已发布勘误
doi:10.1038/s41588-019-0449-0
更新日期:2019-07-01 00:00:00
abstract::Most candidate drugs currently fail later-stage clinical trials, largely due to poor prediction of efficacy on early target selection1. Drug targets with genetic support are more likely to be therapeutically valid2,3, but the translational use of genome-scale data such as from genome-wide association studies for drug ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/s41588-019-0456-1
更新日期:2019-07-01 00:00:00
abstract::Head or ear blight, mainly caused by Fusarium species, can devastate almost all staple cereal crops (particularly wheat), resulting in great economic loss and imposing health threats on both human beings and livestock1-3. However, achievement in breeding for highly resistant cultivars is still not satisfactory. Here, ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/s41588-019-0426-7
更新日期:2019-07-01 00:00:00
abstract::We address the challenge of detecting the contribution of noncoding mutations to disease with a deep-learning-based framework that predicts the specific regulatory effects and the deleterious impact of genetic variants. Applying this framework to 1,790 autism spectrum disorder (ASD) simplex families reveals a role in ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/s41588-019-0420-0
更新日期:2019-06-01 00:00:00
abstract::The histone variant H3.3 is enriched at enhancers and active genes, as well as repeat regions such as telomeres and retroelements, in mouse embryonic stem cells (mESCs)1-3. Although recent studies demonstrate a role for H3.3 and its chaperones in establishing heterochromatin at repeat regions4-8, the function of H3.3 ...
journal_title:Nature genetics
pub_type: 信件
doi:10.1038/s41588-019-0428-5
更新日期:2019-06-01 00:00:00
abstract::For more than 10,000 years, the selection of plant and animal traits that are better tailored for human use has shaped the development of civilizations. During this period, bread wheat (Triticum aestivum) emerged as one of the world's most important crops. We use exome sequencing of a worldwide panel of almost 500 gen...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/s41588-019-0393-z
更新日期:2019-05-01 00:00:00
abstract::In the version of this article initially published, affiliation 38 incorrectly read "ICNU-Nephrology and Urology Department, Barcelona, Spain"; "Renal Division, Hospital Clinic, IDIBAPS, University of Barcelona, Barcelona, Spain" is the correct affiliation. The error has been corrected in the HTML and PDF versions of ...
journal_title:Nature genetics
pub_type: 杂志文章,已发布勘误
doi:10.1038/s41588-019-0376-0
更新日期:2019-04-01 00:00:00
abstract::Transcriptome-wide association studies using predicted expression have identified thousands of genes whose locally regulated expression is associated with complex traits and diseases. In this work, we show that linkage disequilibrium induces significant gene-trait associations at non-causal genes as a function of the ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/s41588-019-0367-1
更新日期:2019-04-01 00:00:00
abstract::Reduced lung function predicts mortality and is key to the diagnosis of chronic obstructive pulmonary disease (COPD). In a genome-wide association study in 400,102 individuals of European ancestry, we define 279 lung function signals, 139 of which are new. In combination, these variants strongly predict COPD in indepe...
journal_title:Nature genetics
pub_type: 杂志文章,meta分析
doi:10.1038/s41588-018-0321-7
更新日期:2019-03-01 00:00:00
abstract::Many primary-tumor subregions have low levels of molecular oxygen, termed hypoxia. Hypoxic tumors are at elevated risk for local failure and distant metastasis, but the molecular hallmarks of tumor hypoxia remain poorly defined. To fill this gap, we quantified hypoxia in 8,006 tumors across 19 tumor types. In ten tumo...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/s41588-018-0318-2
更新日期:2019-02-01 00:00:00
abstract::In the version of this article initially published, '+' and '-' labels were missing from the graph keys at the bottom of Fig. 8d. The error has been corrected in the HTML and PDF versions of the article. ...
journal_title:Nature genetics
pub_type: 杂志文章,已发布勘误
doi:10.1038/s41588-018-0341-3
更新日期:2019-02-01 00:00:00
abstract::Loci discovered by genome-wide association studies predominantly map outside protein-coding genes. The interpretation of the functional consequences of non-coding variants can be greatly enhanced by catalogs of regulatory genomic regions in cell lines and primary tissues. However, robust and readily applicable methods...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/s41588-018-0322-6
更新日期:2019-02-01 00:00:00
abstract::Here we ask the question "How much information do epigenomic datasets provide about human genomic function?" We consider nine epigenomic features across 115 cell types and measure information about function as a reduction in entropy under a probabilistic evolutionary model fitted to human and nonhuman primate genomes....
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/s41588-018-0300-z
更新日期:2019-02-01 00:00:00
abstract::Studies in experimental systems have identified a multitude of mutational mechanisms including DNA replication infidelity and DNA damage followed by inefficient repair or replicative bypass. However, the relative contributions of these mechanisms to human germline mutation remain unknown. Here, we show that error-pron...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/s41588-018-0285-7
更新日期:2019-01-01 00:00:00
abstract::We introduce new statistical methods for analyzing genomic data sets that measure many effects in many conditions (for example, gene expression changes under many treatments). These new methods improve on existing methods by allowing for arbitrary correlations in effect sizes among conditions. This flexible approach i...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/s41588-018-0268-8
更新日期:2019-01-01 00:00:00
abstract:: ...
journal_title:Nature genetics
pub_type: 评论,杂志文章
doi:10.1038/s41588-018-0317-3
更新日期:2019-01-01 00:00:00
abstract::Deep catalogs of genetic variation from thousands of humans enable the detection of intraspecies constraint by identifying coding regions with a scarcity of variation. While existing techniques summarize constraint for entire genes, single gene-wide metrics conceal regional constraint variability within each gene. The...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/s41588-018-0294-6
更新日期:2019-01-01 00:00:00
abstract::In the version of the article published, the author list is not accurate. Igor Cima and Min-Han Tan should have been authors, appearing after Mark Wong in the author list, while Paul Jongjoon Choi should not have been listed as an author. Igor Cima and Min-Han Tan both have the affiliation Institute of Bioengineering ...
journal_title:Nature genetics
pub_type: 杂志文章,已发布勘误
doi:10.1038/s41588-018-0299-1
更新日期:2018-12-01 00:00:00
abstract:: ...
journal_title:Nature genetics
pub_type: 评论,信件
doi:10.1038/s41588-018-0235-4
更新日期:2018-12-01 00:00:00
abstract::We report full-length draft de novo genome assemblies for 16 widely used inbred mouse strains and find extensive strain-specific haplotype variation. We identify and characterize 2,567 regions on the current mouse reference genome exhibiting the greatest sequence diversity. These regions are enriched for genes involve...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/s41588-018-0223-8
更新日期:2018-11-01 00:00:00
abstract:: ...
journal_title:Nature genetics
pub_type: 评论,杂志文章
doi:10.1038/s41588-018-0242-5
更新日期:2018-11-01 00:00:00
abstract::In embryonic stem cells (ESCs), developmental gene promoters are characterized by their bivalent chromatin state, with simultaneous modification by MLL2 and Polycomb complexes. Although essential for embryogenesis, bivalency is functionally not well understood. Here, we show that MLL2 plays a central role in ESC genom...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/s41588-018-0218-5
更新日期:2018-10-01 00:00:00
abstract::We developed a likelihood-based approach for analyzing summary-level statistics and external linkage disequilibrium information to estimate effect-size distributions of common variants, characterized by the proportion of underlying susceptibility SNPs and a flexible normal-mixture model for their effects. Analysis of ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/s41588-018-0193-x
更新日期:2018-09-01 00:00:00