标题
The power of multiplexed functional analysis of genetic variants
作者
关键词
-
出版物
Nature Protocols
Volume 11, Issue 10, Pages 1782-1787
出版商
Springer Nature
发表日期
2016-09-02
DOI
10.1038/nprot.2016.135
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。- Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer
- (2016) Kara N. Maxwell et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Systematic Functional Dissection of Common Genetic Variation Affecting Red Blood Cell Traits
- (2016) Jacob C. Ulirsch et al. CELL
- Direct Identification of Hundreds of Expression-Modulating Variants using a Multiplexed Reporter Assay
- (2016) Ryan Tewhey et al. CELL
- Comprehensive Analysis of the SUL1 Promoter of Saccharomyces cerevisiae
- (2016) Matthew S. Rich et al. GENETICS
- Local fitness landscape of the green fluorescent protein
- (2016) Karen S. Sarkisyan et al. NATURE
- Analysis of protein-coding genetic variation in 60,706 humans
- (2016) Monkol Lek et al. NATURE
- Comprehensive Analysis of the SUL1 Promoter of Saccharomyces cerevisiae
- (2016) Matthew S. Rich et al. GENETICS
- Software for the analysis and visualization of deep mutational scanning data
- (2015) Jesse D Bloom BMC BIOINFORMATICS
- Evolvability as a Function of Purifying Selection in TEM-1 β-Lactamase
- (2015) Michael A. Stiffler et al. CELL
- Learning the Sequence Determinants of Alternative Splicing from Millions of Random Sequences
- (2015) Alexander B. Rosenberg et al. CELL
- Massively Parallel Functional Analysis of BRCA1 RING Domain Variants
- (2015) Lea M. Starita et al. GENETICS
- Massively parallel quantification of the regulatory effects of noncoding genetic variation in a human cohort
- (2015) Christopher M. Vockley et al. GENOME RESEARCH
- Understanding how cis -regulatory function is encoded in DNA sequence using massively parallel reporter assays and designed sequences
- (2015) Michael A. White GENOMICS
- Decoding enhancers using massively parallel reporter assays
- (2015) Fumitaka Inoue et al. GENOMICS
- Conformation-Dependent Epitopes Recognized by Prion Protein Antibodies Probed Using Mutational Scanning and Deep Sequencing
- (2015) Kyle M. Doolan et al. JOURNAL OF MOLECULAR BIOLOGY
- Precise and Efficient Antibody Epitope Determination through Library Design, Yeast Display and Next-Generation Sequencing
- (2015) Thomas Van Blarcom et al. JOURNAL OF MOLECULAR BIOLOGY
- Site-Specific Amino Acid Preferences Are Mostly Conserved in Two Closely Related Protein Homologs
- (2015) Michael B. Doud et al. MOLECULAR BIOLOGY AND EVOLUTION
- BCL11A enhancer dissection by Cas9-mediated in situ saturating mutagenesis
- (2015) Matthew C. Canver et al. NATURE
- Massively parallel single-amino-acid mutagenesis
- (2015) Jacob O Kitzman et al. NATURE METHODS
- ClinVar: public archive of interpretations of clinically relevant variants
- (2015) Melissa J. Landrum et al. NUCLEIC ACIDS RESEARCH
- Pervasive degeneracy and epistasis in a protein-protein interface
- (2015) A. I. Podgornaia et al. SCIENCE
- The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans
- (2015) et al. SCIENCE
- Combining Natural Sequence Variation with High Throughput Mutational Data to Reveal Protein Interaction Sites
- (2015) Daniel Melamed et al. PLoS Genetics
- Systematic Dissection of the Sequence Determinants of Gene 3’ End Mediated Expression Control
- (2015) Ophir Shalem et al. PLoS Genetics
- Massively Parallel Functional Analysis of BRCA1 RING Domain Variants
- (2015) Lea M. Starita et al. GENETICS
- An Experimentally Determined Evolutionary Model Dramatically Improves Phylogenetic Fit
- (2014) Jesse D. Bloom MOLECULAR BIOLOGY AND EVOLUTION
- Saturation editing of genomic regions by multiplex homology-directed repair
- (2014) Gregory M. Findlay et al. NATURE
- Deep mutational scanning: a new style of protein science
- (2014) Douglas M Fowler et al. NATURE METHODS
- High-throughput mutagenesis reveals functional determinants for DNA targeting by activation-induced deaminase
- (2014) Kiran S. Gajula et al. NUCLEIC ACIDS RESEARCH
- Comprehensive mutational scanning of a kinasein vivoreveals substrate-dependent fitness landscapes
- (2014) Alexandre Melnikov et al. NUCLEIC ACIDS RESEARCH
- Exploring the Functional Residues in a Flavin-Binding Fluorescent Protein Using Deep Mutational Scanning
- (2014) HyeonSeok Shin et al. PLoS One
- Rare variants in PPARG with decreased activity in adipocyte differentiation are associated with increased risk of type 2 diabetes
- (2014) A. R. Majithia et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- The human splicing code reveals new insights into the genetic determinants of disease
- (2014) H. Y. Xiong et al. SCIENCE
- Systematic Dissection of Coding Exons at Single Nucleotide Resolution Supports an Additional Role in Cell-Specific Transcriptional Regulation
- (2014) Ramon Y. Birnbaum et al. PLoS Genetics
- The inherent mutational tolerance and antigenic evolvability of influenza hemagglutinin
- (2014) Bargavi Thyagarajan et al. eLife
- A rapid, efficient, and economical inverse polymerase chain reaction-based method for generating a site saturation mutant library
- (2013) Pankaj C. Jain et al. ANALYTICAL BIOCHEMISTRY
- ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing
- (2013) Robert C. Green et al. GENETICS IN MEDICINE
- Computational Design of a Protein-Based Enzyme Inhibitor
- (2013) Erik Procko et al. JOURNAL OF MOLECULAR BIOLOGY
- Deep mutational scanning of an antibody against epidermal growth factor receptor using mammalian cell display and massively parallel pyrosequencing
- (2013) Charles M. Forsyth et al. mAbs
- High-throughput Analysis ofin vivoProtein Stability
- (2013) Ikjin Kim et al. MOLECULAR & CELLULAR PROTEOMICS
- Genome engineering using the CRISPR-Cas9 system
- (2013) F Ann Ran et al. Nature Protocols
- Massive functional mapping of a 5′-UTR by saturation mutagenesis, phenotypic sorting and deep sequencing
- (2013) Erik Holmqvist et al. NUCLEIC ACIDS RESEARCH
- The NHGRI GWAS Catalog, a curated resource of SNP-trait associations
- (2013) Danielle Welter et al. NUCLEIC ACIDS RESEARCH
- Massively parallel in vivo enhancer assay reveals that highly local features determine the cis-regulatory function of ChIP-seq peaks
- (2013) M. A. White et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Activity-enhancing mutations in an E3 ubiquitin ligase identified by high-throughput mutagenesis
- (2013) L. M. Starita et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Deciphering the rules by which 5'-UTR sequences affect protein expression in yeast
- (2013) S. Dvir et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- RNA-Guided Human Genome Engineering via Cas9
- (2013) P. Mali et al. SCIENCE
- RNA-programmed genome editing in human cells
- (2013) Martin Jinek et al. eLife
- Deep Sequencing of Systematic Combinatorial Libraries Reveals β-Lactamase Sequence Constraints at High Resolution
- (2012) Zhifeng Deng et al. JOURNAL OF MOLECULAR BIOLOGY
- The spatial architecture of protein function and adaptation
- (2012) Richard N. McLaughlin Jr et al. NATURE
- Optimization of affinity, specificity and function of designed influenza inhibitors using deep sequencing
- (2012) Timothy A Whitehead et al. NATURE BIOTECHNOLOGY
- Systematic dissection and optimization of inducible enhancers in human cells using a massively parallel reporter assay
- (2012) Alexandre Melnikov et al. NATURE BIOTECHNOLOGY
- Inferring gene regulatory logic from high-throughput measurements of thousands of systematically designed promoters
- (2012) Eilon Sharon et al. NATURE BIOTECHNOLOGY
- Massively parallel functional dissection of mammalian enhancers in vivo
- (2012) Rupali P Patwardhan et al. NATURE BIOTECHNOLOGY
- PFunkel: Efficient, Expansive, User-Defined Mutagenesis
- (2012) Elad Firnberg et al. PLoS One
- Complex effects of nucleotide variants in a mammalian cis-regulatory element
- (2012) J. C. Kwasnieski et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Protein Model Discrimination Using Mutational Sensitivity Derived from Deep Sequencing
- (2012) Bharat V. Adkar et al. STRUCTURE
- Enrich: software for analysis of protein function by enrichment and depletion of variants
- (2011) Douglas M. Fowler et al. BIOINFORMATICS
- Quantitative evaluation of all hexamers as exonic splicing elements
- (2011) Shengdong Ke et al. GENOME RESEARCH
- Experimental illumination of a fitness landscape
- (2011) R. T. Hietpas et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Parallel, tag-directed assembly of locally derived short sequence reads
- (2010) Joseph B Hiatt et al. NATURE METHODS
- High-resolution mapping of protein sequence-function relationships
- (2010) Douglas M Fowler et al. NATURE METHODS
- Using deep sequencing to characterize the biophysical mechanism of a transcriptional regulatory sequence
- (2010) J. B. Kinney et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Mutational Robustness of Ribosomal Protein Genes
- (2010) P. A. Lind et al. SCIENCE
- High-resolution analysis of DNA regulatory elements by synthetic saturation mutagenesis
- (2009) Rupali P Patwardhan et al. NATURE BIOTECHNOLOGY
- Next-generation DNA sequencing
- (2008) Jay Shendure et al. NATURE BIOTECHNOLOGY
Find Funding. Review Successful Grants.
Explore over 25,000 new funding opportunities and over 6,000,000 successful grants.
ExploreDiscover Peeref hubs
Discuss science. Find collaborators. Network.
Join a conversation