Gene-level analysis of rare variants in 379,066 whole exome sequences identifies an association of GIGYF1 loss of function with type 2 diabetes
出版年份 2021 全文链接
标题
Gene-level analysis of rare variants in 379,066 whole exome sequences identifies an association of GIGYF1 loss of function with type 2 diabetes
作者
关键词
-
出版物
Scientific Reports
Volume 11, Issue 1, Pages -
出版商
Springer Science and Business Media LLC
发表日期
2021-11-03
DOI
10.1038/s41598-021-99091-5
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Computationally efficient whole-genome regression for quantitative and binary traits
- (2021) Joelle Mbatchou et al. NATURE GENETICS
- Advancing human genetics research and drug discovery through exome sequencing of the UK Biobank
- (2021) Joseph D. Szustakowski et al. NATURE GENETICS
- Sequencing of 640,000 exomes identifies GPR75 variants associated with protection from obesity
- (2021) Parsa Akbari et al. SCIENCE
- Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism
- (2020) F. Kyle Satterstrom et al. CELL
- Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts
- (2020) Elizabeth T. Cirulli et al. Nature Communications
- The mutational constraint spectrum quantified from variation in 141,456 humans
- (2020) Konrad J. Karczewski et al. NATURE
- Scalable generalized linear mixed model for region-based association tests in large biobanks and cohorts
- (2020) Wei Zhou et al. NATURE GENETICS
- FLT3 stop mutation increases FLT3 ligand level and risk of autoimmune thyroid disease
- (2020) Saedis Saevarsdottir et al. NATURE
- Discovery of 318 new risk loci for type 2 diabetes and related vascular outcomes among 1.4 million participants in a multi-ancestry meta-analysis
- (2020) Marijana Vujkovic et al. NATURE GENETICS
- Exome sequencing and characterization of 49,960 individuals in the UK Biobank
- (2020) Cristopher V. Van Hout et al. NATURE
- 4EHP and GIGYF1/2 Mediate Translation-Coupled Messenger RNA Decay
- (2020) Ramona Weber et al. Cell Reports
- Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls
- (2019) Jason Flannick et al. NATURE
- Phenotypes associated with genes encoding drug targets are predictive of clinical trial side effects
- (2019) Phuong A. Nguyen et al. Nature Communications
- Are drug targets with genetic support twice as likely to be approved? Revised estimates of the impact of genetic support for drug mechanisms on the probability of drug approval
- (2019) Emily A. King et al. PLoS Genetics
- Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases
- (2018) Masahiro Kanai et al. NATURE GENETICS
- Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies
- (2018) Wei Zhou et al. NATURE GENETICS
- A Global Perspective of Latent Autoimmune Diabetes in Adults
- (2018) Rajashree Mishra et al. TRENDS IN ENDOCRINOLOGY AND METABOLISM
- Genome-wide association analyses identify 143 risk variants and putative regulatory mechanisms for type 2 diabetes
- (2018) Angli Xue et al. Nature Communications
- Phenome-wide association studies across large population cohorts support drug target validation
- (2018) Dorothée Diogo et al. Nature Communications
- GIGYF1/2 proteins use auxiliary sequences to selectively bind to 4EHP and repress target mRNA expression
- (2017) Daniel Peter et al. GENES & DEVELOPMENT
- Genetic effects on gene expression across human tissues
- (2017) François Aguet et al. NATURE
- ClinVar: improving access to variant interpretations and supporting evidence
- (2017) Melissa J Landrum et al. NUCLEIC ACIDS RESEARCH
- Unravelling the human genome–phenome relationship using phenome-wide association studies
- (2016) William S. Bush et al. NATURE REVIEWS GENETICS
- Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study
- (2016) Frederick E. Dewey et al. SCIENCE
- Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
- (2015) Sue Richards et al. GENETICS IN MEDICINE
- The support of human genetic evidence for approved drug indications
- (2015) Matthew R Nelson et al. NATURE GENETICS
- SIFT missense predictions for genomes
- (2015) Robert Vaser et al. Nature Protocols
- Tissue-based map of the human proteome
- (2015) M. Uhlen et al. SCIENCE
- Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility
- (2015) Jennifer Wessel et al. Nature Communications
- The Power of Gene-Based Rare Variant Methods to Detect Disease-Associated Variation and Test Hypotheses About Complex Disease
- (2015) Loukas Moutsianas et al. PLoS Genetics
- PRIMUS: Rapid Reconstruction of Pedigrees from Genome-wide Estimates of Identity by Descent
- (2014) Jeffrey Staples et al. AMERICAN JOURNAL OF HUMAN GENETICS
- A Central Role for GRB10 in Regulation of Islet Function in Man
- (2014) Inga Prokopenko et al. PLoS Genetics
- 1000 Genomes-based imputation identifies novel and refined associations for the Wellcome Trust Case Control Consortium phase 1 Data
- (2012) Jie Huang et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- FOXO1 Controls Thyroid Cell Proliferation in Response to TSH and IGF-I and Is Involved in Thyroid Tumorigenesis
- (2012) Miguel A. Zaballos et al. MOLECULAR ENDOCRINOLOGY
- UK Biobank: Current status and what it means for epidemiology
- (2012) Naomi Allen et al. Health Policy and Technology
- A rare variant in MYH6 is associated with high risk of sick sinus syndrome
- (2011) Hilma Holm et al. NATURE GENETICS
- LocusZoom: regional visualization of genome-wide association scan results
- (2010) R. J. Pruim et al. BIOINFORMATICS
- METAL: fast and efficient meta-analysis of genomewide association scans
- (2010) C. J. Willer et al. BIOINFORMATICS
- MutationTaster evaluates disease-causing potential of sequence alterations
- (2010) Jana Marie Schwarz et al. NATURE METHODS
- Fast and accurate short read alignment with Burrows-Wheeler transform
- (2009) H. Li et al. BIOINFORMATICS
- Identification of deleterious mutations within three human genomes
- (2009) S. Chun et al. GENOME RESEARCH
- Long-Range LD Can Confound Genome Scans in Admixed Populations
- (2008) Alkes L. Price et al. AMERICAN JOURNAL OF HUMAN GENETICS
Publish scientific posters with Peeref
Peeref publishes scientific posters from all research disciplines. Our Diamond Open Access policy means free access to content and no publication fees for authors.
Learn MoreAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started