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Showing 1–50 of 72 results
Advanced filters: Author: Joseph Cantor Clear advanced filters
  • Frogs are an ancient and ecologically diverse group of amphibians that include important model systems. This paper reports genome sequences of multiple frog species, revealing remarkable stability of frog chromosomes and centromeres, along with highly recombinogenic extended subtelomeres.

    • Jessen V. Bredeson
    • Austin B. Mudd
    • Daniel S. Rokhsar
    ResearchOpen Access
    Nature Communications
    Volume: 15, P: 1-18
  • An innovative method using superconducting sensors precisely measures the recoil energy of lithium-7 nuclei, setting a lower limit on the spatial extent of neutrino wavepackets, advancing understanding of neutrino properties and weak nuclear decays.

    • Joseph Smolsky
    • Kyle G. Leach
    • William K. Warburton
    ResearchOpen Access
    Nature
    Volume: 638, P: 640-644
  • Whole-genome sequencing, transcriptome-wide association and fine-mapping analyses in over 7,000 individuals with critical COVID-19 are used to identify 16 independent variants that are associated with severe illness in COVID-19.

    • Athanasios Kousathanas
    • Erola Pairo-Castineira
    • J. Kenneth Baillie
    ResearchOpen Access
    Nature
    Volume: 607, P: 97-103
  • A global network of researchers was formed to investigate the role of human genetics in SARS-CoV-2 infection and COVID-19 severity; this paper reports 13 genome-wide significant loci and potentially actionable mechanisms in response to infection.

    • Mari E. K. Niemi
    • Juha Karjalainen
    • Chloe Donohue
    ResearchOpen Access
    Nature
    Volume: 600, P: 472-477
  • A dataset of coding variation, derived from exome sequencing of nearly one million individuals from a range of ancestries, provides insight into rare variants and could accelerate the discovery of disease-associated genes and advance precision medicine efforts.

    • Kathie Y. Sun
    • Xiaodong Bai
    • Suganthi Balasubramanian
    ResearchOpen Access
    Nature
    Volume: 631, P: 583-592
  • Stroke is a multifactorial disease influenced by genetic and environmental factors. Here, the authors apply exome-wide association analysis to find rare coding variants associated with stroke in a Pakistani cohort, finding a significant association of a variant in NOTCH3 that is highly enriched in South Asians.

    • Juan Lorenzo Rodriguez-Flores
    • Shareef Khalid
    • Danish Saleheen
    ResearchOpen Access
    Nature Communications
    Volume: 15, P: 1-14
  • Although structural variation has been previously associated with autism spectrum disorders, this study reports a genome-wide significant association of common variants with susceptibility to this disorder group. The results implicate neuronal cell-adhesion molecules in the pathogenesis of this group of neurodevelopmental and neuropsychiatric disorders.

    • Kai Wang
    • Haitao Zhang
    • Hakon Hakonarson
    Research
    Nature
    Volume: 459, P: 528-533
  • Stratified medicine promises to tailor treatment for individual patients, however it remains a major challenge to leverage genetic risk data to aid patient stratification. Here the authors introduce an approach to stratify individuals based on the aggregated impact of their genetic risk factor profiles on tissue-specific gene expression levels, and highlight its ability to identify biologically meaningful and clinically actionable patient subgroups, supporting the notion of different patient ‘biotypes’ characterized by partially distinct disease mechanisms.

    • Lucia Trastulla
    • Georgii Dolgalev
    • Michael J. Ziller
    ResearchOpen Access
    Nature Communications
    Volume: 15, P: 1-28
  • The genome of the biofuel crop switchgrass (Panicum virgatum) reveals climate–gene–biomass associations that underlie adaptation in nature and will facilitate improvements of the yield of this crop for bioenergy production.

    • John T. Lovell
    • Alice H. MacQueen
    • Jeremy Schmutz
    ResearchOpen Access
    Nature
    Volume: 590, P: 438-444
  • An exome-wide association study of six smoking phenotypes in up to 749,459 individuals identifies associations of rare coding variants in CHRNB2 that may reduce the likelihood of smoking.

    • Veera M. Rajagopal
    • Kyoko Watanabe
    • Giovanni Coppola
    ResearchOpen Access
    Nature Genetics
    Volume: 55, P: 1138-1148
  • Durable agonism of NPR1 achieved with a novel investigational monoclonal antibody could mirror the positive hemodynamic changes in blood pressure and heart failure identified in humans with lifelong exposure to NPR1 coding variants.

    • Michael E. Dunn
    • Aaron Kithcart
    • Lori Morton
    ResearchOpen Access
    Nature
    Volume: 633, P: 654-661
  • Genome-wide meta-analysis of SARS-CoV-2 susceptibility and severity phenotypes in up to 756,646 samples identifies a rare protective variant proximal to ACE2. A 6-SNP genetic risk score provides additional predictive power when added to known risk factors.

    • Julie E. Horowitz
    • Jack A. Kosmicki
    • Manuel A. R. Ferreira
    ResearchOpen Access
    Nature Genetics
    Volume: 54, P: 382-392
  • Genotype and exome sequencing of 150,000 participants and whole-genome sequencing of 9,950 selected individuals recruited into the Mexico City Prospective Study constitute a valuable, publicly available resource of non-European sequencing data.

    • Andrey Ziyatdinov
    • Jason Torres
    • Roberto Tapia-Conyer
    ResearchOpen Access
    Nature
    Volume: 622, P: 784-793
  • The CNV analysis group of the Psychiatric Genomic Consortium analyzes a large schizophrenia cohort to examine genomic copy number variants (CNVs) and disease risk. They find an enrichment of CNV burden in cases versus controls and identify 8 genome-wide significant loci as well as novel suggestive loci conferring either risk or protection to schizophrenia.

    • Christian R Marshall
    • Daniel P Howrigan
    • Jonathan Sebat
    Research
    Nature Genetics
    Volume: 49, P: 27-35
  • Women are more likely than men to experience adverse statin effects, particularly new-onset diabetes and muscle weakness. Here the authors show that statin-treated female mice show reduced levels of docosahexaenoic acid (DHA) and that the adverse effects are prevented by administering fish oil as a source of DHA, by reducing dosage of the X chromosome or the Kdm5c gene.

    • Peixiang Zhang
    • Joseph J. Munier
    • Karen Reue
    ResearchOpen Access
    Nature Communications
    Volume: 15, P: 1-15
  • Exome sequences from the first 49,960 participants in the UK Biobank highlight the promise of genome sequencing in large population-based studies and are now accessible to the scientific community.

    • Cristopher V. Van Hout
    • Ioanna Tachmazidou
    • Aris Baras
    ResearchOpen Access
    Nature
    Volume: 586, P: 749-756
  • The two homoeologous subgenomes in the allotetraploid frog Xenopus laevis evolved asymmetrically; one often retained the ancestral state, whereas the other experienced gene loss, deletion, rearrangement and reduced gene expression.

    • Adam M. Session
    • Yoshinobu Uno
    • Daniel S. Rokhsar
    ResearchOpen Access
    Nature
    Volume: 538, P: 336-343
  • Anterior Uveitis is a common inflammatory eye disease that can result in vision loss. Here, the authors perform GWAS and whole-exome analyses of Anterior Uveitis to identify the underlying genetics of HLA-B*27 positive and negative forms of the disease.

    • Sahar Gelfman
    • Arden Moscati
    • Giovanni Coppola
    ResearchOpen Access
    Nature Communications
    Volume: 14, P: 1-13
  • Schizophrenia is a complex disorder with high heritability but poorly understood genetics. Here Olde Loohuis et al.compare schizophrenia patients to unaffected individuals and identify an increased individual burden of rare deleterious mutations in patients.

    • Loes M. Olde Loohuis
    • Jacob A. S. Vorstman
    • Roel A. Ophoff
    ResearchOpen Access
    Nature Communications
    Volume: 6, P: 1-6
  • Sexual dimorphism in genetic vulnerability to schizophrenia, systemic lupus erythematosus and Sjögren’s syndrome is linked to differential protein abundance from alleles of complement component 4.

    • Nolan Kamitaki
    • Aswin Sekar
    • Steven A. McCarroll
    Research
    Nature
    Volume: 582, P: 577-581
  • Circulating liver enzymes, like alanine aminotransferase (ALT) and aspartate aminotransferase (AST), are highly heritable and predictive of disease. Here, the authors perform a genome-wide association study on ALT and AST, revealing a rare variant in SLC30A10 associated with elevated ALT and AST.

    • Lucas D. Ward
    • Ho-Chou Tu
    • Paul Nioi
    ResearchOpen Access
    Nature Communications
    Volume: 12, P: 1-14
  • Better analytical methods are needed to extract biological meaning from genome-wide association studies (GWAS) of psychiatric disorders. Here the authors take GWAS data from over 60,000 subjects, including patients with schizophrenia, bipolar disorder and major depression, and identify common etiological pathways shared amongst them.

    • Colm O'Dushlaine
    • Lizzy Rossin
    • Gerome Breen
    Research
    Nature Neuroscience
    Volume: 18, P: 199-209
  • Autism spectrum disorders (ASDs) are neurodevelopmental disorders characterized by impairments in social and communication skills. Accumulating evidence suggests a genetic component to ASDs, and here a two-stage, genome-wide approach is used to identify candidate genomic loci enriched in ASD cases. The majority of these loci are found to be involved in neuronal adhesion and ubiquitin degradation, suggesting novel susceptibility mechanisms.

    • Joseph T. Glessner
    • Kai Wang
    • Hakon Hakonarson
    Research
    Nature
    Volume: 459, P: 569-573
  • The function of the CD98hc transmembrane protein in adaptive immune responses has been unclear. Ginsberg and colleagues show that CD98hc is needed for B cell proliferation and subsequent plasma cell differentiation.

    • Joseph Cantor
    • Cecille D Browne
    • Mark H Ginsberg
    Research
    Nature Immunology
    Volume: 10, P: 412-419
  • Autism is a highly heritable neurodevelopmental disorder, and yet few specific susceptibility genes have been identified to date. A linkage and association mapping study using half a million genome-wide single nucleotide polymorphisms is now described in a common set of 1,031 multiplex autism families. The linkage regions identified provide targets for rare variation screening whereas the discovery of a single novel association, SEMA5A, demonstrates the action of common variants.

    • Lauren A. Weiss
    • Dan E. Arking
    • Leena Peltonen
    Research
    Nature
    Volume: 461, P: 802-808
  • Genome-wide analyses identify variants in B3GALT5 and ST6GAL1 associated with influenza susceptibility. Knockdown of ST6GAL1 in cell culture reduces influenza infectivity, likely by interfering with the glycoprotein modifications required for viral entry.

    • Jack A. Kosmicki
    • Anthony Marcketta
    • Manuel A. R. Ferreira
    ResearchOpen Access
    Nature Genetics
    Volume: 56, P: 1592-1596
  • Relatives of patients with amyotrophic lateral sclerosis have an unexpectedly high incidence of schizophrenia. Here, the authors show a genetic link between the two conditions, suggesting shared neurobiological mechanisms.

    • Russell L. McLaughlin
    • Dick Schijven
    • Michael C. O’Donovan
    ResearchOpen Access
    Nature Communications
    Volume: 8, P: 1-12
  • The authors defined a roadmap for investigating the genetic covariance between structural or functional brain phenotypes and risk for psychiatric disorders. Their proof-of-concept study using the largest available common variant data sets for schizophrenia and volumes of several (mainly subcortical) brain structures did not find evidence of genetic overlap.

    • Barbara Franke
    • Jason L Stein
    • Patrick F Sullivan
    Research
    Nature Neuroscience
    Volume: 19, P: 420-431
  • Schizophrenia is a highly heritable genetic disorder, however, identification of specific genetic risk variants has proven difficult because of its complex polygenic nature—a large multi-stage genome-wide association study identifies 128 independent associations in over 100 loci (83 of which are new); key findings include identification of genes involved in glutamergic neurotransmission and support for a link between the immune system and schizophrenia.

    • Stephan Ripke
    • Benjamin M. Neale
    • Michael C. O’Donovan
    Research
    Nature
    Volume: 511, P: 421-427
  • Nelson Freimer and colleagues analyze gene expression data from multiple tissue samples combined with genotype data from vervet monkeys to catalog expression quantitative trait loci (eQTLs). They generate a transcriptome resource analogous to the GTEx project and perform comparative and eQTL enrichment analyses for various traits.

    • Anna J Jasinska
    • Ivette Zelaya
    • Nelson B Freimer
    Research
    Nature Genetics
    Volume: 49, P: 1714-1721
  • The autistic spectrum disorders (ASDs) are highly heritable, yet the underlying genetic determinants remain largely unknown. Here, a genome-wide analysis of rare copy number variants (CNVs) has been carried out, revealing that ASD sufferers carry a higher load of rare, genic CNVs than do controls. Many of these CNVs are de novo and inherited. The results implicate several novel genes in ASDs, and point to the importance of cellular proliferation, projection and motility, as well as specific signalling pathways, in these disorders.

    • Dalila Pinto
    • Alistair T. Pagnamenta
    • Catalina Betancur
    Research
    Nature
    Volume: 466, P: 368-372
  • Here, the authors report the results of a randomized, placebo controlled trial of children with acute gastroenteritis who were treated with a probiotic and find no virus-specific beneficial effects attributable to the probiotic, either in reducing clinical symptoms or clearance of viral nucleic acid from stool specimens.

    • Stephen B. Freedman
    • Jianling Xie
    • Marc H. Gorelick
    ResearchOpen Access
    Nature Communications
    Volume: 11, P: 1-9