听力与言语-语言病理学

行为科学

医学伦理学

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  • Efficient phasing and imputation of low-coverage sequencing data using large reference panels.

    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

    authors: Rubinacci S,Ribeiro DM,Hofmeister RJ,Delaneau O

    更新日期:2021-01-01 00:00:00

  • MLL4-associated condensates counterbalance Polycomb-mediated nuclear mechanical stress in Kabuki syndrome.

    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

    authors: Fasciani A,D'Annunzio S,Poli V,Fagnocchi L,Beyes S,Michelatti D,Corazza F,Antonelli L,Gregoretti F,Oliva G,Belli R,Peroni D,Domenici E,Zambrano S,Intartaglia D,Settembre C,Conte I,Testi C,Vergyris P,Ruocco G,Zippo

    更新日期:2020-12-01 00:00:00

  • Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals.

    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

    authors: Surendran P,Feofanova EV,Lahrouchi N,Ntalla I,Karthikeyan S,Cook J,Chen L,Mifsud B,Yao C,Kraja AT,Cartwright JH,Hellwege JN,Giri A,Tragante V,Thorleifsson G,Liu DJ,Prins BP,Stewart ID,Cabrera CP,Eales JM,Akbarov A

    更新日期:2020-12-01 00:00:00

  • Author Correction: PGBD5 promotes site-specific oncogenic mutations in human tumors.

    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

    authors: Henssen AG,Koche R,Zhuang J,Jiang E,Reed C,Eisenberg A,Still E,MacArthur IC,Rodríguez-Fos E,Gonzalez S,Puiggròs M,Blackford AN,Mason CE,de Stanchina E,Gönen M,Emde AK,Shah M,Arora K,Reeves C,Socci ND,Perlman E,A

    更新日期:2020-11-01 00:00:00

  • Haplotype-resolved genome analyses of a heterozygous diploid potato.

    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

    authors: Zhou Q,Tang D,Huang W,Yang Z,Zhang Y,Hamilton JP,Visser RGF,Bachem CWB,Robin Buell C,Zhang Z,Zhang C,Huang S

    更新日期:2020-10-01 00:00:00

  • Transcription imparts architecture, function and logic to enhancer units.

    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

    authors: Tippens ND,Liang J,Leung AK,Wierbowski SD,Ozer A,Booth JG,Lis JT,Yu H

    更新日期:2020-10-01 00:00:00

  • Cohesin promotes stochastic domain intermingling to ensure proper regulation of boundary-proximal genes.

    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

    authors: Luppino JM,Park DS,Nguyen SC,Lan Y,Xu Z,Yunker R,Joyce EF

    更新日期:2020-08-01 00:00:00

  • Cas9 activates the p53 pathway and selects for p53-inactivating mutations.

    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

    authors: Enache OM,Rendo V,Abdusamad M,Lam D,Davison D,Pal S,Currimjee N,Hess J,Pantel S,Nag A,Thorner AR,Doench JG,Vazquez F,Beroukhim R,Golub TR,Ben-David U

    更新日期:2020-07-01 00:00:00

  • Lineage-dependent gene expression programs influence the immune landscape of colorectal cancer.

    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

    authors: Lee HO,Hong Y,Etlioglu HE,Cho YB,Pomella V,Van den Bosch B,Vanhecke J,Verbandt S,Hong H,Min JW,Kim N,Eum HH,Qian J,Boeckx B,Lambrechts D,Tsantoulis P,De Hertogh G,Chung W,Lee T,An M,Shin HT,Joung JG,Jung MH,

    更新日期:2020-06-01 00:00:00

  • Unraveling tumor-immune heterogeneity in advanced ovarian cancer uncovers immunogenic effect of chemotherapy.

    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

    authors: Jiménez-Sánchez A,Cybulska P,Mager KL,Koplev S,Cast O,Couturier DL,Memon D,Selenica P,Nikolovski I,Mazaheri Y,Bykov Y,Geyer FC,Macintyre G,Gavarró LM,Drews RM,Gill MB,Papanastasiou AD,Sosa RE,Soslow RA,Walther T,S

    更新日期:2020-06-01 00:00:00

  • Three-dimensional chromatin landscapes in T cell acute lymphoblastic leukemia.

    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

    authors: Kloetgen A,Thandapani P,Ntziachristos P,Ghebrechristos Y,Nomikou S,Lazaris C,Chen X,Hu H,Bakogianni S,Wang J,Fu Y,Boccalatte F,Zhong H,Paietta E,Trimarchi T,Zhu Y,Van Vlierberghe P,Inghirami GG,Lionnet T,Aifantis I

    更新日期:2020-04-01 00:00:00

  • Author Correction: Transcription phenotypes of pancreatic cancer are driven by genomic events during tumor evolution.

    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

    authors: Chan-Seng-Yue M,Kim JC,Wilson GW,Ng K,Figueroa EF,O'Kane GM,Connor AA,Denroche RE,Grant RC,McLeod J,Wilson JM,Jang GH,Zhang A,Liang SB,Borgida A,Chadwick D,Kalimuthu S,Lungu I,Bartlett JMS,Krzyzanowski PM,Sandhu V

    更新日期:2020-04-01 00:00:00

  • Early TP53 alterations engage environmental exposures to promote gastric premalignancy in an integrative mouse model.

    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

    authors: Sethi NS,Kikuchi O,Duronio GN,Stachler MD,McFarland JM,Ferrer-Luna R,Zhang Y,Bao C,Bronson R,Patil D,Sanchez-Vega F,Liu JB,Sicinska E,Lazaro JB,Ligon KL,Beroukhim R,Bass AJ

    更新日期:2020-02-01 00:00:00

  • Genome-wide association analysis of 19,629 individuals identifies variants influencing regional brain volumes and refines their genetic co-architecture with cognitive and mental health traits.

    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

    authors: Zhao B,Luo T,Li T,Li Y,Zhang J,Shan Y,Wang X,Yang L,Zhou F,Zhu Z,Alzheimer’s Disease Neuroimaging Initiative.,Pediatric Imaging, Neurocognition and Genetics.,Zhu H

    更新日期:2019-11-01 00:00:00

  • Improving grain yield, stress resilience and quality of bread wheat using large-scale genomics.

    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

    authors: Juliana P,Poland J,Huerta-Espino J,Shrestha S,Crossa J,Crespo-Herrera L,Toledo FH,Govindan V,Mondal S,Kumar U,Bhavani S,Singh PK,Randhawa MS,He X,Guzman C,Dreisigacker S,Rouse MN,Jin Y,Pérez-Rodríguez P,Montesinos-L

    更新日期:2019-10-01 00:00:00

  • A reference genome for pea provides insight into legume genome evolution.

    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

    authors: Kreplak J,Madoui MA,Cápal P,Novák P,Labadie K,Aubert G,Bayer PE,Gali KK,Syme RA,Main D,Klein A,Bérard A,Vrbová I,Fournier C,d'Agata L,Belser C,Berrabah W,Toegelová H,Milec Z,Vrána J,Lee H,Kougbeadjo A,Térézol

    更新日期:2019-09-01 00:00:00

  • Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease.

    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

    authors: Ishiura H,Shibata S,Yoshimura J,Suzuki Y,Qu W,Doi K,Almansour MA,Kikuchi JK,Taira M,Mitsui J,Takahashi Y,Ichikawa Y,Mano T,Iwata A,Harigaya Y,Matsukawa MK,Matsukawa T,Tanaka M,Shirota Y,Ohtomo R,Kowa H,Date H,

    更新日期:2019-08-01 00:00:00

  • Publisher Correction: Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes.

    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

    authors: Malik R,Chauhan G,Traylor M,Sargurupremraj M,Okada Y,Mishra A,Rutten-Jacobs L,Giese AK,van der Laan SW,Gretarsdottir S,Anderson CD,Chong M,Adams HHH,Ago T,Almgren P,Amouyel P,Ay H,Bartz TM,Benavente OR,Bevan S,Bon

    更新日期:2019-07-01 00:00:00

  • A genetics-led approach defines the drug target landscape of 30 immune-related traits.

    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

    authors: Fang H,ULTRA-DD Consortium.,De Wolf H,Knezevic B,Burnham KL,Osgood J,Sanniti A,Lledó Lara A,Kasela S,De Cesco S,Wegner JK,Handunnetthi L,McCann FE,Chen L,Sekine T,Brennan PE,Marsden BD,Damerell D,O'Callaghan CA,Boun

    更新日期:2019-07-01 00:00:00

  • Mutation of a histidine-rich calcium-binding-protein gene in wheat confers resistance to Fusarium head blight.

    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

    authors: Li G,Zhou J,Jia H,Gao Z,Fan M,Luo Y,Zhao P,Xue S,Li N,Yuan Y,Ma S,Kong Z,Jia L,An X,Jiang G,Liu W,Cao W,Zhang R,Fan J,Xu X,Liu Y,Kong Q,Zheng S,Wang Y,Qin B,Cao S,Ding Y,Shi J,Yan H,Wang X,Ran

    更新日期:2019-07-01 00:00:00

  • Whole-genome deep-learning analysis identifies contribution of noncoding mutations to autism risk.

    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

    authors: Zhou J,Park CY,Theesfeld CL,Wong AK,Yuan Y,Scheckel C,Fak JJ,Funk J,Yao K,Tajima Y,Packer A,Darnell RB,Troyanskaya OG

    更新日期:2019-06-01 00:00:00

  • Phosphorylation of histone H3.3 at serine 31 promotes p300 activity and enhancer acetylation.

    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

    authors: Martire S,Gogate AA,Whitmill A,Tafessu A,Nguyen J,Teng YC,Tastemel M,Banaszynski LA

    更新日期:2019-06-01 00:00:00

  • Tracing the ancestry of modern bread wheats.

    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

    authors: Pont C,Leroy T,Seidel M,Tondelli A,Duchemin W,Armisen D,Lang D,Bustos-Korts D,Goué N,Balfourier F,Molnár-Láng M,Lage J,Kilian B,Özkan H,Waite D,Dyer S,Letellier T,Alaux M,Wheat and Barley Legacy for Breeding Improveme

    更新日期:2019-05-01 00:00:00

  • Author Correction: The copy number variation landscape of congenital anomalies of the kidney and urinary tract.

    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

    authors: Verbitsky M,Westland R,Perez A,Kiryluk K,Liu Q,Krithivasan P,Mitrotti A,Fasel DA,Batourina E,Sampson MG,Bodria M,Werth M,Kao C,Martino J,Capone VP,Vivante A,Shril S,Kil BH,Marasa M,Zhang JY,Na YJ,Lim TY,Ahram

    更新日期:2019-04-01 00:00:00

  • Probabilistic fine-mapping of transcriptome-wide association studies.

    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

    authors: Mancuso N,Freund MK,Johnson R,Shi H,Kichaev G,Gusev A,Pasaniuc B

    更新日期:2019-04-01 00:00:00

  • New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.

    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

    authors: Shrine N,Guyatt AL,Erzurumluoglu AM,Jackson VE,Hobbs BD,Melbourne CA,Batini C,Fawcett KA,Song K,Sakornsakolpat P,Li X,Boxall R,Reeve NF,Obeidat M,Zhao JH,Wielscher M,Weiss S,Kentistou KA,Cook JP,Sun BB,Zhou J,Hu

    更新日期:2019-03-01 00:00:00

  • Molecular landmarks of tumor hypoxia across cancer types.

    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

    authors: Bhandari V,Hoey C,Liu LY,Lalonde E,Ray J,Livingstone J,Lesurf R,Shiah YJ,Vujcic T,Huang X,Espiritu SMG,Heisler LE,Yousif F,Huang V,Yamaguchi TN,Yao CQ,Sabelnykova VY,Fraser M,Chua MLK,van der Kwast T,Liu SK,Bout

    更新日期:2019-02-01 00:00:00

  • Publisher Correction: Immune genes are primed for robust transcription by proximal long noncoding RNAs located in nuclear compartments.

    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

    authors: Fanucchi S,Fok ET,Dalla E,Shibayama Y,Börner K,Chang EY,Stoychev S,Imakaev M,Grimm D,Wang KC,Li G,Sung WK,Mhlanga MM

    更新日期:2019-02-01 00:00:00

  • GARFIELD classifies disease-relevant genomic features through integration of functional annotations with association signals.

    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

    authors: Iotchkova V,Ritchie GRS,Geihs M,Morganella S,Min JL,Walter K,Timpson NJ,UK10K Consortium.,Dunham I,Birney E,Soranzo N

    更新日期:2019-02-01 00:00:00

  • An evolutionary framework for measuring epigenomic information and estimating cell-type-specific fitness consequences.

    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

    authors: Gulko B,Siepel A

    更新日期:2019-02-01 00:00:00

  • Error-prone bypass of DNA lesions during lagging-strand replication is a common source of germline and cancer mutations.

    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

    authors: Seplyarskiy VB,Akkuratov EE,Akkuratova N,Andrianova MA,Nikolaev SI,Bazykin GA,Adameyko I,Sunyaev SR

    更新日期:2019-01-01 00:00:00

  • Flexible statistical methods for estimating and testing effects in genomic studies with multiple conditions.

    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

    authors: Urbut SM,Wang G,Carbonetto P,Stephens M

    更新日期:2019-01-01 00:00:00

  • Opening up a large can of worms.

    abstract:: ...

    journal_title:Nature genetics

    pub_type: 评论,杂志文章

    doi:10.1038/s41588-018-0317-3

    authors: Sternberg PW

    更新日期:2019-01-01 00:00:00

  • A map of constrained coding regions in the human genome.

    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

    authors: Havrilla JM,Pedersen BS,Layer RM,Quinlan AR

    更新日期:2019-01-01 00:00:00

  • Author Correction: Reference component analysis of single-cell transcriptomes elucidates cellular heterogeneity in human colorectal tumors.

    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

    authors: Li H,Courtois ET,Sengupta D,Tan Y,Chen KH,Goh JJL,Kong SL,Chua C,Hon LK,Tan WS,Wong M,Cima I,Tan MH,Wee LJK,Hillmer AM,Tan IB,Robson P,Prabhakar S

    更新日期:2018-12-01 00:00:00

  • Reply to 'Currently available bulk sequencing data do not necessarily support a model of neutral tumor evolution'.

    abstract:: ...

    journal_title:Nature genetics

    pub_type: 评论,信件

    doi:10.1038/s41588-018-0235-4

    authors: Werner B,Williams MJ,Barnes CP,Graham TA,Sottoriva A

    更新日期:2018-12-01 00:00:00

  • Sixteen diverse laboratory mouse reference genomes define strain-specific haplotypes and novel functional loci.

    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

    authors: Lilue J,Doran AG,Fiddes IT,Abrudan M,Armstrong J,Bennett R,Chow W,Collins J,Collins S,Czechanski A,Danecek P,Diekhans M,Dolle DD,Dunn M,Durbin R,Earl D,Ferguson-Smith A,Flicek P,Flint J,Frankish A,Fu B,Gerstein

    更新日期:2018-11-01 00:00:00

  • Public resources aid diabetes gene discovery.

    abstract:: ...

    journal_title:Nature genetics

    pub_type: 评论,杂志文章

    doi:10.1038/s41588-018-0242-5

    authors: Cousminer DL,Grant SFA

    更新日期:2018-11-01 00:00:00

  • Promoter bivalency favors an open chromatin architecture in embryonic stem cells.

    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

    authors: Mas G,Blanco E,Ballaré C,Sansó M,Spill YG,Hu D,Aoi Y,Le Dily F,Shilatifard A,Marti-Renom MA,Di Croce L

    更新日期:2018-10-01 00:00:00

  • Estimation of complex effect-size distributions using summary-level statistics from genome-wide association studies across 32 complex traits.

    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

    authors: Zhang Y,Qi G,Park JH,Chatterjee N

    更新日期:2018-09-01 00:00:00

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