Assessing the impact of population stratification on genetic association studies.

abstract：:Desmin-related myopathies (DRM) are inherited neuromuscular disorders characterized by adult onset and delayed accumulation of aggregates of desmin, a protein belonging to the type III intermediate filament family, in the sarcoplasma of skeletal and cardiac muscles. In this paper, we have mapped the locus for DRM in a...

journal_title：Nature genetics

authors： Vicart P,Caron A,Guicheney P,Li Z,Prévost MC,Faure A,Chateau D,Chapon F,Tomé F,Dupret JM,Paulin D,Fardeau M

更新日期：1998-09-01 00:00:00

abstract：:Novel approaches to the structural and functional analysis of mammalian chromosomes would be possible if the gross structure of the chromosomes in living cells could be engineered. Controlled modifications can be engineered by conventional targeting techniques based on homologous recombination. Large but uncontrolled ...

journal_title：Nature genetics

authors： Itzhaki JE,Barnett MA,MacCarthy AB,Buckle VJ,Brown WR,Porter AC

更新日期：1992-12-01 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

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

abstract：:Size at birth is an important determinant of perinatal survival and has also been associated with the risk for cardiovascular disease and type 2 diabetes in adult life. Common genetic variation that regulates fetal growth could therefore influence perinatal survival and predispose to the development of adult disease. ...

journal_title：Nature genetics

authors： Dunger DB,Ong KK,Huxtable SJ,Sherriff A,Woods KA,Ahmed ML,Golding J,Pembrey ME,Ring S,Bennett ST,Todd JA

更新日期：1998-05-01 00:00:00

abstract：:The promyelocytic leukaemia zinc finger (Plzf) protein (encoded by the gene Zfp145) belongs to the POZ/zinc-finger family of transcription factors. Here we generate Zfp145-/- mice and show that Plzf is essential for patterning of the limb and axial skeleton. Plzf inactivation results in patterning defects affecting al...

journal_title：Nature genetics

authors： Barna M,Hawe N,Niswander L,Pandolfi PP

更新日期：2000-06-01 00:00:00

abstract：:Detailed analyses of the clone-based genome assembly reveal that the recent duplication content of mouse (4.94%) is now comparable to that of human (5.5%), in contrast to previous estimates from the whole-genome shotgun sequence assembly. However, the architecture of mouse and human genomes differs markedly: most mous...

journal_title：Nature genetics

authors： She X,Cheng Z,Zöllner S,Church DM,Eichler EE

更新日期：2008-07-01 00:00:00

abstract：:Perturbations to mammalian SWI/SNF (mSWI/SNF or BAF) complexes contribute to more than 20% of human cancers, with driving roles first identified in malignant rhabdoid tumor, an aggressive pediatric cancer characterized by biallelic inactivation of the core BAF complex subunit SMARCB1 (BAF47). However, the mechanism by...

journal_title：Nature genetics

authors： Nakayama RT,Pulice JL,Valencia AM,McBride MJ,McKenzie ZM,Gillespie MA,Ku WL,Teng M,Cui K,Williams RT,Cassel SH,Qing H,Widmer CJ,Demetri GD,Irizarry RA,Zhao K,Ranish JA,Kadoch C

更新日期：2017-11-01 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

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

abstract：:The epicardial epithelial-mesenchymal transition (EMT) is hypothesized to generate cardiovascular progenitor cells that differentiate into various cell types, including coronary smooth muscle and endothelial cells, perivascular and cardiac interstitial fibroblasts and cardiomyocytes. Here we show that an epicardial-sp...

journal_title：Nature genetics

authors： Martínez-Estrada OM,Lettice LA,Essafi A,Guadix JA,Slight J,Velecela V,Hall E,Reichmann J,Devenney PS,Hohenstein P,Hosen N,Hill RE,Muñoz-Chapuli R,Hastie ND

更新日期：2010-01-01 00:00:00

abstract：:Many individuals with multiple or large colorectal adenomas or early-onset colorectal cancer (CRC) have no detectable germline mutations in the known cancer predisposition genes. Using whole-genome sequencing, supplemented by linkage and association analysis, we identified specific heterozygous POLE or POLD1 germline ...

journal_title：Nature genetics

authors： Palles C,Cazier JB,Howarth KM,Domingo E,Jones AM,Broderick P,Kemp Z,Spain SL,Guarino E,Salguero I,Sherborne A,Chubb D,Carvajal-Carmona LG,Ma Y,Kaur K,Dobbins S,Barclay E,Gorman M,Martin L,Kovac MB,Humphray S,COR

更新日期：2013-02-01 00:00:00

abstract：:We conducted a meta-analysis of genome-wide association data to detect genes influencing age at menarche in 17,510 women. The strongest signal was at 9q31.2 (P = 1.7 × 10(-9)), where the nearest genes include TMEM38B, FKTN, FSD1L, TAL2 and ZNF462. The next best signal was near the LIN28B gene (rs7759938; P = 7.0 × 10(...

journal_title：Nature genetics

authors： Perry JR,Stolk L,Franceschini N,Lunetta KL,Zhai G,McArdle PF,Smith AV,Aspelund T,Bandinelli S,Boerwinkle E,Cherkas L,Eiriksdottir G,Estrada K,Ferrucci L,Folsom AR,Garcia M,Gudnason V,Hofman A,Karasik D,Kiel DP,Lau

更新日期：2009-06-01 00:00:00

abstract：:Facioscapulohumeral dystrophy (FSHD) is characterized by chromatin relaxation of the D4Z4 macrosatellite array on chromosome 4 and expression of the D4Z4-encoded DUX4 gene in skeletal muscle. The more common form, autosomal dominant FSHD1, is caused by contraction of the D4Z4 array, whereas the genetic determinants an...

journal_title：Nature genetics

authors： Lemmers RJ,Tawil R,Petek LM,Balog J,Block GJ,Santen GW,Amell AM,van der Vliet PJ,Almomani R,Straasheijm KR,Krom YD,Klooster R,Sun Y,den Dunnen JT,Helmer Q,Donlin-Smith CM,Padberg GW,van Engelen BG,de Greef JC,Aartsm

更新日期：2012-12-01 00:00:00

abstract：:Micro RNAs are a large family of noncoding RNAs of 21-22 nucleotides whose functions are generally unknown. Here a large subset of Drosophila micro RNAs is shown to be perfectly complementary to several classes of sequence motif previously demonstrated to mediate negative post-transcriptional regulation. These finding...

journal_title：Nature genetics

authors： Lai EC

更新日期：2002-04-01 00:00:00

abstract：:To identify genetic markers for laryngeal squamous cell carcinoma (LSCC), we conducted a genome-wide association study (GWAS) on 993 individuals with LSCC (cases) and 1,995 cancer-free controls from Chinese populations. The most promising variants (association P < 1 × 10(-5)) were then replicated in 3 independent sets...

journal_title：Nature genetics

authors： Wei Q,Yu D,Liu M,Wang M,Zhao M,Liu M,Jia W,Ma H,Fang J,Xu W,Chen K,Xu Z,Wang J,Tian L,Yuan H,Chang J,Hu Z,Wei L,Huang Y,Han Y,Liu J,Han D,Shen H,Yang S,Zheng H,Ji Q,Li D,Tan W,Wu C,Lin D

更新日期：2014-10-01 00:00:00

abstract：:During evolution different genes evolve at unequal rates, reflecting the varying functional constraints on phenotype. An important contributor to this variation is genetic buffering, which reduces the potential detrimental effects of mutations. We studied whether gene duplication and redundant metabolic networks affec...

journal_title：Nature genetics

authors： Kitami T,Nadeau JH

更新日期：2002-09-01 00:00:00

abstract：:Diffuse large B-cell lymphoma (DLBCL) is the most common form of human lymphoma. Although a number of structural alterations have been associated with the pathogenesis of this malignancy, the full spectrum of genetic lesions that are present in the DLBCL genome, and therefore the identity of dysregulated cellular path...

journal_title：Nature genetics

authors： Pasqualucci L,Trifonov V,Fabbri G,Ma J,Rossi D,Chiarenza A,Wells VA,Grunn A,Messina M,Elliot O,Chan J,Bhagat G,Chadburn A,Gaidano G,Mullighan CG,Rabadan R,Dalla-Favera R

更新日期：2011-07-31 00:00:00

abstract：:There is increasing evidence in eukaryotic genomes that gene order is not random, even allowing for tandem duplication. Notably, in numerous genomes, genes of similar expression tend to be clustered. Are there other reasons for clustering of functionally similar genes? If genes are linked to enable genetic, rather tha...

journal_title：Nature genetics

authors： Pál C,Hurst LD

更新日期：2003-03-01 00:00:00

abstract：:The shift from outcrossing to selfing is common in flowering plants, but the genomic consequences and the speed at which they emerge remain poorly understood. An excellent model for understanding the evolution of self fertilization is provided by Capsella rubella, which became self compatible <200,000 years ago. We re...

journal_title：Nature genetics

authors： Slotte T,Hazzouri KM,Ågren JA,Koenig D,Maumus F,Guo YL,Steige K,Platts AE,Escobar JS,Newman LK,Wang W,Mandáková T,Vello E,Smith LM,Henz SR,Steffen J,Takuno S,Brandvain Y,Coop G,Andolfatto P,Hu TT,Blanchette M,

更新日期：2013-07-01 00:00:00

abstract：:DNA repair defects in the xeroderma pigmentosum (XP) group D complementation group can be associated with the clinical features of two quite different disorders; XP, a sun-sensitive and cancer-prone disorder, or trichothiodystrophy (TTD) which is characterized by sulphur-deficient brittle hair and a variety of other a...

journal_title：Nature genetics

authors： Broughton BC,Steingrimsdottir H,Weber CA,Lehmann AR

更新日期：1994-06-01 00:00:00

abstract：:The lipodystrophies are a group of disorders characterized by the absence or reduction of subcutaneous adipose tissue. Partial lipodystrophy (PLD; MIM 151660) is an inherited condition in which a regional (trunk and limbs) loss of fat occurs during the peri-pubertal phase. Additionally, variable degrees of resistance ...

journal_title：Nature genetics

authors： Shackleton S,Lloyd DJ,Jackson SN,Evans R,Niermeijer MF,Singh BM,Schmidt H,Brabant G,Kumar S,Durrington PN,Gregory S,O'Rahilly S,Trembath RC

更新日期：2000-02-01 00:00:00

abstract：:To further resolve the genetic architecture of the inflammatory bowel diseases ulcerative colitis and Crohn's disease, we sequenced the whole genomes of 4,280 patients at low coverage and compared them to 3,652 previously sequenced population controls across 73.5 million variants. We then imputed from these sequences ...

journal_title：Nature genetics

authors： Luo Y,de Lange KM,Jostins L,Moutsianas L,Randall J,Kennedy NA,Lamb CA,McCarthy S,Ahmad T,Edwards C,Serra EG,Hart A,Hawkey C,Mansfield JC,Mowat C,Newman WG,Nichols S,Pollard M,Satsangi J,Simmons A,Tremelling M,Uh

更新日期：2017-02-01 00:00:00

abstract：:Whipworms are common soil-transmitted helminths that cause debilitating chronic infections in man. These nematodes are only distantly related to Caenorhabditis elegans and have evolved to occupy an unusual niche, tunneling through epithelial cells of the large intestine. We report here the whole-genome sequences of th...

journal_title：Nature genetics

authors： Foth BJ,Tsai IJ,Reid AJ,Bancroft AJ,Nichol S,Tracey A,Holroyd N,Cotton JA,Stanley EJ,Zarowiecki M,Liu JZ,Huckvale T,Cooper PJ,Grencis RK,Berriman M

更新日期：2014-07-01 00:00:00

abstract：:Both polygenicity (many small genetic effects) and confounding biases, such as cryptic relatedness and population stratification, can yield an inflated distribution of test statistics in genome-wide association studies (GWAS). However, current methods cannot distinguish between inflation from a true polygenic signal a...

journal_title：Nature genetics

authors： Bulik-Sullivan BK,Loh PR,Finucane HK,Ripke S,Yang J,Schizophrenia Working Group of the Psychiatric Genomics Consortium.,Patterson N,Daly MJ,Price AL,Neale BM

更新日期：2015-03-01 00:00:00

abstract：:Kawasaki disease is a pediatric systemic vasculitis of unknown etiology for which a genetic influence is suspected. We identified a functional SNP (itpkc_3) in the inositol 1,4,5-trisphosphate 3-kinase C (ITPKC) gene on chromosome 19q13.2 that is significantly associated with Kawasaki disease susceptibility and also w...

journal_title：Nature genetics

authors： Onouchi Y,Gunji T,Burns JC,Shimizu C,Newburger JW,Yashiro M,Nakamura Y,Yanagawa H,Wakui K,Fukushima Y,Kishi F,Hamamoto K,Terai M,Sato Y,Ouchi K,Saji T,Nariai A,Kaburagi Y,Yoshikawa T,Suzuki K,Tanaka T,Nagai T,

更新日期：2008-01-01 00:00:00

abstract：:With access to whole genome sequences for various organisms and imminent completion of the Human Genome Project, the entire process of discovery in molecular and cellular biology is poised to change. Massively parallel measurement strategies promise to revolutionize how we study and ultimately understand the complex b...

journal_title：Nature genetics

authors： Burley SK,Almo SC,Bonanno JB,Capel M,Chance MR,Gaasterland T,Lin D,Sali A,Studier FW,Swaminathan S

更新日期：1999-10-01 00:00:00

abstract：:Comparisons of chromosome X and the autosomes can illuminate differences in the histories of males and females as well as shed light on the forces of natural selection. We compared the patterns of variation in these parts of the genome using two datasets that we assembled for this study that are both genomic in scale....

journal_title：Nature genetics

authors： Keinan A,Mullikin JC,Patterson N,Reich D

更新日期：2009-01-01 00:00:00

abstract：:Hypertension, diabetes and hyperlipidemia are risk factors for life-threatening complications such as end-stage renal disease, coronary artery disease and stroke. Why some patients develop complications is unclear, but only susceptibility genes may be involved. To test this notion, we studied crosses involving the faw...

journal_title：Nature genetics

authors： Brown DM,Provoost AP,Daly MJ,Lander ES,Jacob HJ

更新日期：1996-01-01 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

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

abstract：:Evolutionary theory predicts substantial interspecific and intraspecific differences in the proximal mechanisms of ageing. Our goal here is to seek evidence for common ('public') mechanisms among diverse organisms amenable to genetic analysis. Oxidative damage is a candidate for such a public mechanism of ageing. Long...

journal_title：Nature genetics

authors： Martin GM,Austad SN,Johnson TE

更新日期：1996-05-01 00:00:00

abstract：:Although dietary gluten is the trigger for celiac disease, risk is strongly influenced by genetic variation in the major histocompatibility complex (MHC) region. We fine mapped the MHC association signal to identify additional risk factors independent of the HLA-DQA1 and HLA-DQB1 alleles and observed five new associat...

journal_title：Nature genetics

authors： Gutierrez-Achury J,Zhernakova A,Pulit SL,Trynka G,Hunt KA,Romanos J,Raychaudhuri S,van Heel DA,Wijmenga C,de Bakker PI

更新日期：2015-06-01 00:00:00