abstract：:Through whole-genome sequencing of 2,230 Icelanders, we detected a rare nonsynonymous SNP (minor allele frequency = 0.55%) in the C3 gene encoding a p.Lys155Gln substitution in complement factor 3, which, following imputation into a set of Icelandic cases with age-related macular degeneration (AMD) and controls, assoc...

journal_title：Nature genetics

authors： Helgason H,Sulem P,Duvvari MR,Luo H,Thorleifsson G,Stefansson H,Jonsdottir I,Masson G,Gudbjartsson DF,Walters GB,Magnusson OT,Kong A,Rafnar T,Kiemeney LA,Schoenmaker-Koller FE,Zhao L,Boon CJ,Song Y,Fauser S,Pei M,

更新日期：2013-11-01 00:00:00

abstract：:Cell size is determined by the balance between protein synthesis and degradation. This equilibrium is affected by hormones, nutrients, energy levels, mechanical stress and cytokines. Mutations that inactivate myostatin lead to excessive muscle growth in animals and humans, but the signals and pathways responsible for ...

journal_title：Nature genetics

authors： Sartori R,Schirwis E,Blaauw B,Bortolanza S,Zhao J,Enzo E,Stantzou A,Mouisel E,Toniolo L,Ferry A,Stricker S,Goldberg AL,Dupont S,Piccolo S,Amthor H,Sandri M

更新日期：2013-11-01 00:00:00

abstract：:Cystic echinococcosis (hydatid disease), caused by the tapeworm E. granulosus, is responsible for considerable human morbidity and mortality. This cosmopolitan disease is difficult to diagnose, treat and control. We present a draft genomic sequence for the worm comprising 151.6 Mb encoding 11,325 genes. Comparisons wi...

journal_title：Nature genetics

authors： Zheng H,Zhang W,Zhang L,Zhang Z,Li J,Lu G,Zhu Y,Wang Y,Huang Y,Liu J,Kang H,Chen J,Wang L,Chen A,Yu S,Gao Z,Jin L,Gu W,Wang Z,Zhao L,Shi B,Wen H,Lin R,Jones MK,Brejova B,Vinar T,Zhao G,McManus DP,C

更新日期：2013-10-01 00:00:00

abstract：:The Cancer Genome Atlas Pan-Cancer Analysis Working Group collaborated on the Synapse software platform to share and evolve data, results and methodologies while performing integrative analysis of molecular profiling data from 12 tumor types. The group's work serves as a pilot case study that provides (i) a template f...

journal_title：Nature genetics

authors： Omberg L,Ellrott K,Yuan Y,Kandoth C,Wong C,Kellen MR,Friend SH,Stuart J,Liang H,Margolin AA

更新日期：2013-10-01 00:00:00

abstract：:Allelic heterogeneity in disease-causing genes presents a substantial challenge to the translation of genomic variation into clinical practice. Few of the almost 2,000 variants in the cystic fibrosis transmembrane conductance regulator gene CFTR have empirical evidence that they cause cystic fibrosis. To address this ...

journal_title：Nature genetics

authors： Sosnay PR,Siklosi KR,Van Goor F,Kaniecki K,Yu H,Sharma N,Ramalho AS,Amaral MD,Dorfman R,Zielenski J,Masica DL,Karchin R,Millen L,Thomas PJ,Patrinos GP,Corey M,Lewis MH,Rommens JM,Castellani C,Penland CM,Cutting GR

更新日期：2013-10-01 00:00:00

abstract：:Epileptic encephalopathies are severe brain disorders with the epileptic component contributing to the worsening of cognitive and behavioral manifestations. Acquired epileptic aphasia (Landau-Kleffner syndrome, LKS) and continuous spike and waves during slow-wave sleep syndrome (CSWSS) represent rare and closely relat...

journal_title：Nature genetics

authors： Lesca G,Rudolf G,Bruneau N,Lozovaya N,Labalme A,Boutry-Kryza N,Salmi M,Tsintsadze T,Addis L,Motte J,Wright S,Tsintsadze V,Michel A,Doummar D,Lascelles K,Strug L,Waters P,de Bellescize J,Vrielynck P,de Saint Martin A

更新日期：2013-09-01 00:00:00

abstract：:Recent studies indicate that a subclass of APOBEC cytidine deaminases, which convert cytosine to uracil during RNA editing and retrovirus or retrotransposon restriction, may induce mutation clusters in human tumors. We show here that throughout cancer genomes APOBEC-mediated mutagenesis is pervasive and correlates wit...

journal_title：Nature genetics

authors： Roberts SA,Lawrence MS,Klimczak LJ,Grimm SA,Fargo D,Stojanov P,Kiezun A,Kryukov GV,Carter SL,Saksena G,Harris S,Shah RR,Resnick MA,Getz G,Gordenin DA

更新日期：2013-09-01 00:00:00

abstract：:Despite advances in sequencing, the goal of obtaining a comprehensive view of genetic variation in populations is still far from reached. We sequenced 180 lines of A. thaliana from Sweden to obtain as complete a picture as possible of variation in a single region. Whereas simple polymorphisms in the unique portion of ...

journal_title：Nature genetics

authors： Long Q,Rabanal FA,Meng D,Huber CD,Farlow A,Platzer A,Zhang Q,Vilhjálmsson BJ,Korte A,Nizhynska V,Voronin V,Korte P,Sedman L,Mandáková T,Lysak MA,Seren Ü,Hellmann I,Nordborg M

更新日期：2013-08-01 00:00:00

abstract：:To identify new genetic risk factors for cervical cancer, we conducted a genome-wide association study in the Han Chinese population. The initial discovery set included 1,364 individuals with cervical cancer (cases) and 3,028 female controls, and we selected a 'stringently matched samples' subset (829 cases and 990 co...

journal_title：Nature genetics

authors： Shi Y,Li L,Hu Z,Li S,Wang S,Liu J,Wu C,He L,Zhou J,Li Z,Hu T,Chen Y,Jia Y,Wang S,Wu L,Cheng X,Yang Z,Yang R,Li X,Huang K,Zhang Q,Zhou H,Tang F,Chen Z,Shen J,Jiang J,Ding H,Xing H,Zhang S,Qu P,S

更新日期：2013-08-01 00:00:00

abstract：:Congenital heart malformation (CHM) is the most common form of congenital human birth anomaly and is the leading cause of infant mortality. Although some causative genes have been identified, little progress has been made in identifying genes in which low-penetrance susceptibility variants occur in the majority of spo...

journal_title：Nature genetics

authors： Hu Z,Shi Y,Mo X,Xu J,Zhao B,Lin Y,Yang S,Xu Z,Dai J,Pan S,Da M,Wang X,Qian B,Wen Y,Wen J,Xing J,Guo X,Xia Y,Ma H,Jin G,Yu S,Liu J,Zhou Z,Wang X,Chen Y,Sha J,Shen H

更新日期：2013-07-01 00:00:00

abstract：:Here we report an integrated analysis that leverages data from treatment of genetic mouse models of prostate cancer along with clinical data from patients to elucidate new mechanisms of castration resistance. We show that castration counteracts tumor progression in a Pten loss-driven mouse model of prostate cancer thr...

journal_title：Nature genetics

authors： Lunardi A,Ala U,Epping MT,Salmena L,Clohessy JG,Webster KA,Wang G,Mazzucchelli R,Bianconi M,Stack EC,Lis R,Patnaik A,Cantley LC,Bubley G,Cordon-Cardo C,Gerald WL,Montironi R,Signoretti S,Loda M,Nardella C,Pandolfi

更新日期：2013-07-01 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：:Testicular germ cell tumor (TGCT) is the most common cancer in young men and is notable for its high familial risks. So far, six loci associated with TGCT have been reported. From genome-wide association study (GWAS) analysis of 307,291 SNPs in 986 TGCT cases and 4,946 controls, we selected for follow-up 694 SNPs, whi...

journal_title：Nature genetics

authors： Ruark E,Seal S,McDonald H,Zhang F,Elliot A,Lau K,Perdeaux E,Rapley E,Eeles R,Peto J,Kote-Jarai Z,Muir K,Nsengimana J,Shipley J,UK Testicular Cancer Collaboration (UKTCC).,Bishop DT,Stratton MR,Easton DF,Huddart RA,R

更新日期：2013-06-01 00:00:00

abstract：:We performed a genome-wide association study of non-Hispanic, white individuals with fibrotic idiopathic interstitial pneumonias (IIPs; n = 1,616) and controls (n = 4,683), with follow-up replication analyses in 876 cases and 1,890 controls. We confirmed association with TERT at 5p15, MUC5B at 11p15 and the 3q26 regio...

journal_title：Nature genetics

authors： Fingerlin TE,Murphy E,Zhang W,Peljto AL,Brown KK,Steele MP,Loyd JE,Cosgrove GP,Lynch D,Groshong S,Collard HR,Wolters PJ,Bradford WZ,Kossen K,Seiwert SD,du Bois RM,Garcia CK,Devine MS,Gudmundsson G,Isaksson HJ,Kami

更新日期：2013-06-01 00:00:00

abstract：:Several attributes intuitively considered to be typical mammalian features, such as complex behavior, live birth and malignant disease such as cancer, also appeared several times independently in lower vertebrates. The genetic mechanisms underlying the evolution of these elaborate traits are poorly understood. The pla...

journal_title：Nature genetics

authors： Schartl M,Walter RB,Shen Y,Garcia T,Catchen J,Amores A,Braasch I,Chalopin D,Volff JN,Lesch KP,Bisazza A,Minx P,Hillier L,Wilson RK,Fuerstenberg S,Boore J,Searle S,Postlethwait JH,Warren WC

更新日期：2013-05-01 00:00:00

abstract：:Plant cytoplasmic male sterility (CMS) results from incompatibilities between the organellar and nuclear genomes and prevents self pollination, enabling hybrid crop breeding to increase yields. The Wild Abortive CMS (CMS-WA) has been exploited in the majority of 'three-line' hybrid rice production since the 1970s, but...

journal_title：Nature genetics

authors： Luo D,Xu H,Liu Z,Guo J,Li H,Chen L,Fang C,Zhang Q,Bai M,Yao N,Wu H,Wu H,Ji C,Zheng H,Chen Y,Ye S,Li X,Zhao X,Li R,Liu YG

更新日期：2013-05-01 00:00:00

abstract：:The importance of commensal microbes for human health is increasingly recognized, yet the impacts of evolutionary changes in human diet and culture on commensal microbiota remain almost unknown. Two of the greatest dietary shifts in human evolution involved the adoption of carbohydrate-rich Neolithic (farming) diets (...

journal_title：Nature genetics

authors： Adler CJ,Dobney K,Weyrich LS,Kaidonis J,Walker AW,Haak W,Bradshaw CJ,Townsend G,Sołtysiak A,Alt KW,Parkhill J,Cooper A

更新日期：2013-04-01 00:00:00

abstract：:An ever-larger proportion of the liability to common and complex disease can be obtained by progressively larger studies. However, for most diseases, the sample sizes required to gain usable predictions will be out of reach of sequencing technologies for the foreseeable future. Array-based genotyping genome-wide assoc...

journal_title：Nature genetics

authors：

更新日期：2013-04-01 00:00:00

abstract：:Genome-wide association studies (GWAS) have identified four susceptibility loci for epithelial ovarian cancer (EOC), with another two suggestive loci reaching near genome-wide significance. We pooled data from a GWAS conducted in North America with another GWAS from the UK. We selected the top 24,551 SNPs for inclusio...

journal_title：Nature genetics

authors： Pharoah PD,Tsai YY,Ramus SJ,Phelan CM,Goode EL,Lawrenson K,Buckley M,Fridley BL,Tyrer JP,Shen H,Weber R,Karevan R,Larson MC,Song H,Tessier DC,Bacot F,Vincent D,Cunningham JM,Dennis J,Dicks E,Australian Cancer Stud

更新日期：2013-04-01 00:00:00

abstract：:Domestication of cereal crops, such as maize, wheat and rice, had a profound influence on agriculture and the establishment of human civilizations. One major improvement was an increase in seed number per inflorescence, which enhanced yield and simplified harvesting and storage. The ancestor of maize, teosinte, makes ...

journal_title：Nature genetics

authors： Bommert P,Nagasawa NS,Jackson D

更新日期：2013-03-01 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：:Epidemic C. difficile (027/BI/NAP1) has rapidly emerged in the past decade as the leading cause of antibiotic-associated diarrhea worldwide. However, the key events in evolutionary history leading to its emergence and the subsequent patterns of global spread remain unknown. Here, we define the global population struct...

journal_title：Nature genetics

authors： He M,Miyajima F,Roberts P,Ellison L,Pickard DJ,Martin MJ,Connor TR,Harris SR,Fairley D,Bamford KB,D'Arc S,Brazier J,Brown D,Coia JE,Douce G,Gerding D,Kim HJ,Koh TH,Kato H,Senoh M,Louie T,Michell S,Butt E,Pea

更新日期：2013-01-01 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：:A highly invasive form of non-typhoidal Salmonella (iNTS) disease has recently been documented in many countries in sub-Saharan Africa. The most common Salmonella enterica serovar causing this disease is Typhimurium (Salmonella Typhimurium). We applied whole-genome sequence-based phylogenetic methods to define the pop...

journal_title：Nature genetics

authors： Okoro CK,Kingsley RA,Connor TR,Harris SR,Parry CM,Al-Mashhadani MN,Kariuki S,Msefula CL,Gordon MA,de Pinna E,Wain J,Heyderman RS,Obaro S,Alonso PL,Mandomando I,MacLennan CA,Tapia MD,Levine MM,Tennant SM,Parkhill J,

更新日期：2012-11-01 00:00:00

abstract：:Genome-wide association studies (GWAS) have not consistently detected replicable genetic risk factors for ischemic stroke, potentially due to etiological heterogeneity of this trait. We performed GWAS of ischemic stroke and a major ischemic stroke subtype (large artery atherosclerosis, LAA) using 1,162 ischemic stroke...

journal_title：Nature genetics

authors： Holliday EG,Maguire JM,Evans TJ,Koblar SA,Jannes J,Sturm JW,Hankey GJ,Baker R,Golledge J,Parsons MW,Malik R,McEvoy M,Biros E,Lewis MD,Lincz LF,Peel R,Oldmeadow C,Smith W,Moscato P,Barlera S,Bevan S,Bis JC,Boer

更新日期：2012-10-01 00:00:00

abstract：:We genotyped 2,861 cases of primary biliary cirrhosis (PBC) from the UK PBC Consortium and 8,514 UK population controls across 196,524 variants within 186 known autoimmune risk loci. We identified 3 loci newly associated with PBC (at P<5×10(-8)), increasing the number of known susceptibility loci to 25. The most assoc...

journal_title：Nature genetics

authors： Liu JZ,Almarri MA,Gaffney DJ,Mells GF,Jostins L,Cordell HJ,Ducker SJ,Day DB,Heneghan MA,Neuberger JM,Donaldson PT,Bathgate AJ,Burroughs A,Davies MH,Jones DE,Alexander GJ,Barrett JC,Sandford RN,Anderson CA,UK Primary

更新日期：2012-10-01 00:00:00

abstract：:Leber congenital amaurosis (LCA) is a blinding retinal disease that presents within the first year after birth. Using exome sequencing, we identified mutations in the nicotinamide adenine dinucleotide (NAD) synthase gene NMNAT1 encoding nicotinamide mononucleotide adenylyltransferase 1 in eight families with LCA, incl...

journal_title：Nature genetics

authors： Koenekoop RK,Wang H,Majewski J,Wang X,Lopez I,Ren H,Chen Y,Li Y,Fishman GA,Genead M,Schwartzentruber J,Solanki N,Traboulsi EI,Cheng J,Logan CV,McKibbin M,Hayward BE,Parry DA,Johnson CA,Nageeb M,Finding of Rare Dis

更新日期：2012-09-01 00:00:00

abstract：:Exome sequencing has become a powerful and effective strategy for the discovery of genes underlying Mendelian disorders. However, use of exome sequencing to identify variants associated with complex traits has been more challenging, partly because the sample sizes needed for adequate power may be very large. One strat...

journal_title：Nature genetics

authors： Emond MJ,Louie T,Emerson J,Zhao W,Mathias RA,Knowles MR,Wright FA,Rieder MJ,Tabor HK,Nickerson DA,Barnes KC,National Heart, Lung, and Blood Institute (NHLBI) GO Exome Sequencing Project.,Lung GO.,Gibson RL,Bamshad MJ

更新日期：2012-07-08 00:00:00

abstract：:The 17q21.31 inversion polymorphism exists either as direct (H1) or inverted (H2) haplotypes with differential predispositions to disease and selection. We investigated its genetic diversity in 2,700 individuals, with an emphasis on African populations. We characterize eight structural haplotypes due to complex rearra...

journal_title：Nature genetics

authors： Steinberg KM,Antonacci F,Sudmant PH,Kidd JM,Campbell CD,Vives L,Malig M,Scheinfeldt L,Beggs W,Ibrahim M,Lema G,Nyambo TB,Omar SA,Bodo JM,Froment A,Donnelly MP,Kidd KK,Tishkoff SA,Eichler EE

更新日期：2012-07-01 00:00:00

abstract：:The molecular pathogenesis of renal cell carcinoma (RCC) is poorly understood. Whole-genome and exome sequencing followed by innovative tumorgraft analyses (to accurately determine mutant allele ratios) identified several putative two-hit tumor suppressor genes, including BAP1. The BAP1 protein, a nuclear deubiquitina...

journal_title：Nature genetics

authors： Peña-Llopis S,Vega-Rubín-de-Celis S,Liao A,Leng N,Pavía-Jiménez A,Wang S,Yamasaki T,Zhrebker L,Sivanand S,Spence P,Kinch L,Hambuch T,Jain S,Lotan Y,Margulis V,Sagalowsky AI,Summerour PB,Kabbani W,Wong SW,Grishin N,

更新日期：2012-06-10 00:00:00

abstract：:Using homozygosity mapping and locus resequencing, we found that alterations in the homeodomain of the IRX5 transcription factor cause a recessive congenital disorder affecting face, brain, blood, heart, bone and gonad development. We found through in vivo modeling in Xenopus laevis embryos that Irx5 modulates the mig...

journal_title：Nature genetics

authors： Bonnard C,Strobl AC,Shboul M,Lee H,Merriman B,Nelson SF,Ababneh OH,Uz E,Güran T,Kayserili H,Hamamy H,Reversade B

更新日期：2012-05-13 00:00:00

abstract：:Opisthorchis viverrini-related cholangiocarcinoma (CCA), a fatal bile duct cancer, is a major public health concern in areas endemic for this parasite. We report here whole-exome sequencing of eight O. viverrini-related tumors and matched normal tissue. We identified and validated 206 somatic mutations in 187 genes us...

journal_title：Nature genetics

authors： Ong CK,Subimerb C,Pairojkul C,Wongkham S,Cutcutache I,Yu W,McPherson JR,Allen GE,Ng CC,Wong BH,Myint SS,Rajasegaran V,Heng HL,Gan A,Zang ZJ,Wu Y,Wu J,Lee MH,Huang D,Ong P,Chan-on W,Cao Y,Qian CN,Lim KH,Ooi

更新日期：2012-05-06 00:00:00

abstract：:UV-sensitive syndrome (UV(S)S) is a genodermatosis characterized by cutaneous photosensitivity without skin carcinoma. Despite mild clinical features, cells from individuals with UV(S)S, like Cockayne syndrome cells, are very UV sensitive and are deficient in transcription-coupled nucleotide-excision repair (TC-NER), ...

journal_title：Nature genetics

authors： Nakazawa Y,Sasaki K,Mitsutake N,Matsuse M,Shimada M,Nardo T,Takahashi Y,Ohyama K,Ito K,Mishima H,Nomura M,Kinoshita A,Ono S,Takenaka K,Masuyama R,Kudo T,Slor H,Utani A,Tateishi S,Yamashita S,Stefanini M,Lehmann

更新日期：2012-05-01 00:00:00

abstract：:Walker-Warburg syndrome (WWS) is clinically defined as congenital muscular dystrophy that is accompanied by a variety of brain and eye malformations. It represents the most severe clinical phenotype in a spectrum of diseases associated with abnormal post-translational processing of a-dystroglycan that share a defect i...

journal_title：Nature genetics

authors： Willer T,Lee H,Lommel M,Yoshida-Moriguchi T,de Bernabe DB,Venzke D,Cirak S,Schachter H,Vajsar J,Voit T,Muntoni F,Loder AS,Dobyns WB,Winder TL,Strahl S,Mathews KD,Nelson SF,Moore SA,Campbell KP

更新日期：2012-05-01 00:00:00

abstract：:Bone mineral density (BMD) is the most widely used predictor of fracture risk. We performed the largest meta-analysis to date on lumbar spine and femoral neck BMD, including 17 genome-wide association studies and 32,961 individuals of European and east Asian ancestry. We tested the top BMD-associated markers for repli...

journal_title：Nature genetics

authors： Estrada K,Styrkarsdottir U,Evangelou E,Hsu YH,Duncan EL,Ntzani EE,Oei L,Albagha OM,Amin N,Kemp JP,Koller DL,Li G,Liu CT,Minster RL,Moayyeri A,Vandenput L,Willner D,Xiao SM,Yerges-Armstrong LM,Zheng HF,Alonso N,E

更新日期：2012-04-15 00:00:00

abstract：:The genetic architectures of common, complex diseases are largely uncharacterized. We modeled the genetic architecture underlying genome-wide association study (GWAS) data for rheumatoid arthritis and developed a new method using polygenic risk-score analyses to infer the total liability-scale variance explained by as...

journal_title：Nature genetics

authors： Stahl EA,Wegmann D,Trynka G,Gutierrez-Achury J,Do R,Voight BF,Kraft P,Chen R,Kallberg HJ,Kurreeman FA,Diabetes Genetics Replication and Meta-analysis Consortium.,Myocardial Infarction Genetics Consortium.,Kathiresan S,Wijmenga

更新日期：2012-03-25 00:00:00

abstract：:We present an approximate conditional and joint association analysis that can use summary-level statistics from a meta-analysis of genome-wide association studies (GWAS) and estimated linkage disequilibrium (LD) from a reference sample with individual-level genotype data. Using this method, we analyzed meta-analysis s...

journal_title：Nature genetics

authors： Yang J,Ferreira T,Morris AP,Medland SE,Genetic Investigation of ANthropometric Traits (GIANT) Consortium.,DIAbetes Genetics Replication And Meta-analysis (DIAGRAM) Consortium.,Madden PA,Heath AC,Martin NG,Montgomery GW,Weedon MN,Lo

更新日期：2012-03-18 00:00:00

abstract：:Familial hyperkalemic hypertension (FHHt) is a Mendelian form of arterial hypertension that is partially explained by mutations in WNK1 and WNK4 that lead to increased activity of the Na(+)-Cl(-) cotransporter (NCC) in the distal nephron. Using combined linkage analysis and whole-exome sequencing in two families, we i...

journal_title：Nature genetics

authors： Louis-Dit-Picard H,Barc J,Trujillano D,Miserey-Lenkei S,Bouatia-Naji N,Pylypenko O,Beaurain G,Bonnefond A,Sand O,Simian C,Vidal-Petiot E,Soukaseum C,Mandet C,Broux F,Chabre O,Delahousse M,Esnault V,Fiquet B,Houillier

更新日期：2012-03-11 00:00:00

abstract：:We defined the genetic landscape of balanced chromosomal rearrangements at nucleotide resolution by sequencing 141 breakpoints from cytogenetically interpreted translocations and inversions. We confirm that the recently described phenomenon of 'chromothripsis' (massive chromosomal shattering and reorganization) is not...

journal_title：Nature genetics

authors： Chiang C,Jacobsen JC,Ernst C,Hanscom C,Heilbut A,Blumenthal I,Mills RE,Kirby A,Lindgren AM,Rudiger SR,McLaughlan CJ,Bawden CS,Reid SJ,Faull RL,Snell RG,Hall IM,Shen Y,Ohsumi TK,Borowsky ML,Daly MJ,Lee C,Morton C

更新日期：2012-03-04 00:00:00

abstract：:Schizophrenia is a complex disorder caused by both genetic and environmental factors. Using 9,087 affected individuals, 12,171 controls and 915,354 imputed SNPs from the Schizophrenia Psychiatric Genome-Wide Association Study (GWAS) Consortium (PGC-SCZ), we estimate that 23% (s.e. = 1%) of variation in liability to sc...

journal_title：Nature genetics

authors： Lee SH,DeCandia TR,Ripke S,Yang J,Schizophrenia Psychiatric Genome-Wide Association Study Consortium (PGC-SCZ).,International Schizophrenia Consortium (ISC).,Molecular Genetics of Schizophrenia Collaboration (MGS).,Sullivan PF,Goddard ME

更新日期：2012-02-19 00:00:00