标题
Disease variant prediction with deep generative models of evolutionary data
作者
关键词
-
出版物
NATURE
Volume 599, Issue 7883, Pages 91-95
出版商
Springer Science and Business Media LLC
发表日期
2021-10-28
DOI
10.1038/s41586-021-04043-8
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。- Deep Mutational Scan of an SCN5A Voltage Sensor
- (2020) Andrew M. Glazer et al. Circulation-Genomic and Precision Medicine
- The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals
- (2020) Yanan Cao et al. CELL RESEARCH
- The mutational constraint spectrum quantified from variation in 141,456 humans
- (2020) Konrad J. Karczewski et al. NATURE
- High-Throughput Reclassification of SCN5A Variants
- (2020) Andrew M. Glazer et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Exome sequencing and characterization of 49,960 individuals in the UK Biobank
- (2020) Cristopher V. Van Hout et al. NATURE
- Massively parallel functional testing of MSH2 missense variants conferring Lynch syndrome risk
- (2020) Xiaoyan Jia et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Methylation Tolerance-based Functional Assay to Assess Variants of Unknown Significance in the MLH1 and MSH2 Genes and Identify Patients With Lynch Syndrome
- (2019) Delphine Bouvet et al. GASTROENTEROLOGY
- A Saturation Mutagenesis Approach to Understanding PTEN Lipid Phosphatase Activity and Genotype-Phenotype Relationships
- (2018) Taylor L. Mighell et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Accurate classification of BRCA1 variants with saturation genome editing
- (2018) Gregory M. Findlay et al. NATURE
- Mutational processes shape the landscape of TP53 mutations in human cancer
- (2018) Andrew O. Giacomelli et al. NATURE GENETICS
- Deep generative models of genetic variation capture the effects of mutations
- (2018) Adam J. Riesselman et al. NATURE METHODS
- ClinVar at five years: Delivering on the promise
- (2018) Melissa J. Landrum et al. HUMAN MUTATION
- Putting genetic variants to a fitness test
- (2018) Michelle Trenkmann NATURE REVIEWS GENETICS
- CADD: predicting the deleteriousness of variants throughout the human genome
- (2018) Philipp Rentzsch et al. NUCLEIC ACIDS RESEARCH
- PERCH: A Unified Framework for Disease Gene Prioritization
- (2017) Bing-Jian Feng HUMAN MUTATION
- Mutation effects predicted from sequence co-variation
- (2017) Thomas A Hopf et al. NATURE BIOTECHNOLOGY
- DEOGEN2: prediction and interactive visualization of single amino acid variant deleteriousness in human proteins
- (2017) Daniele Raimondi et al. NUCLEIC ACIDS RESEARCH
- REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants
- (2016) Nilah M. Ioannidis et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics
- (2016) Sarah S. Kalia et al. GENETICS IN MEDICINE
- A spectral approach integrating functional genomic annotations for coding and noncoding variants
- (2016) Iuliana Ionita-Laza et al. NATURE GENETICS
- M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity
- (2016) Karthik A Jagadeesh et al. NATURE GENETICS
- Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction
- (2015) Hideki Itoh et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- 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 Evaluation of Tools Used to Predict the Impact of Missense Variants Is Hindered by Two Types of Circularity
- (2015) Dominik G. Grimm et al. HUMAN MUTATION
- Large-scale whole-genome sequencing of the Icelandic population
- (2015) Daniel F Gudbjartsson et al. NATURE GENETICS
- SIFT missense predictions for genomes
- (2015) Robert Vaser et al. Nature Protocols
- ClinGen — The Clinical Genome Resource
- (2015) Heidi L. Rehm et al. NEW ENGLAND JOURNAL OF MEDICINE
- UniRef clusters: a comprehensive and scalable alternative for improving sequence similarity searches
- (2014) B. E. Suzek et al. BIOINFORMATICS
- Predicting the functional impact of protein mutations: application to cancer genomics
- (2011) Boris Reva et al. NUCLEIC ACIDS RESEARCH
- Protein 3D Structure Computed from Evolutionary Sequence Variation
- (2011) Debora S. Marks et al. PLoS One
- A method and server for predicting damaging missense mutations
- (2010) Ivan A Adzhubei et al. NATURE METHODS
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