标题
The Characteristics of Heterozygous Protein Truncating Variants in the Human Genome
作者
关键词
Mammalian genomics, Haploinsufficiency, Alleles, Curve fitting, Frameshift mutation, Mouse models, Protein complexes, Genome annotation
出版物
PLoS Computational Biology
Volume 11, Issue 12, Pages e1004647
出版商
Public Library of Science (PLoS)
发表日期
2015-12-09
DOI
10.1371/journal.pcbi.1004647
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。- Identification of a large set of rare complete human knockouts
- (2015) Patrick Sulem et al. NATURE GENETICS
- Effect of predicted protein-truncating genetic variants on the human transcriptome
- (2015) M. A. Rivas et al. SCIENCE
- Estimating genotype error rates from high-coverage next-generation sequence data
- (2014) Jeffrey D. Wall et al. GENOME RESEARCH
- Chemical mutagens, transposons, and transgenes to interrogate gene function in Drosophila melanogaster
- (2014) Koen J.T. Venken et al. METHODS
- Guidelines for investigating causality of sequence variants in human disease
- (2014) D. G. MacArthur et al. NATURE
- A framework for the interpretation of de novo mutation in human disease
- (2014) Kaitlin E Samocha et al. NATURE GENETICS
- Comprehensive variation discovery in single human genomes
- (2014) Neil I Weisenfeld et al. NATURE GENETICS
- The Mouse Genome Database (MGD): facilitating mouse as a model for human biology and disease
- (2014) Janan T. Eppig et al. NUCLEIC ACIDS RESEARCH
- Autoimmunity by haploinsufficiency
- (2014) F. Rieux-Laucat et al. SCIENCE
- Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4
- (2014) H. S. Kuehn et al. SCIENCE
- Reducing INDEL calling errors in whole genome and exome sequencing data
- (2014) Han Fang et al. Genome Medicine
- The Genomic Landscape of Compensatory Evolution
- (2014) Béla Szamecz et al. PLOS BIOLOGY
- Analysis of Stop-Gain and Frameshift Variants in Human Innate Immunity Genes
- (2014) Antonio Rausell et al. PLoS Computational Biology
- Distribution and Medical Impact of Loss-of-Function Variants in the Finnish Founder Population
- (2014) Elaine T. Lim et al. PLoS Genetics
- Genome-wide Generation and Systematic Phenotyping of Knockout Mice Reveals New Roles for Many Genes
- (2013) Jacqueline K. White et al. CELL
- The Genome of the Netherlands: design, and project goals
- (2013) Dorret I Boomsma et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Genome-Scale CRISPR-Cas9 Knockout Screening in Human Cells
- (2013) Ophir Shalem et al. SCIENCE
- Genetic Screens in Human Cells Using the CRISPR-Cas9 System
- (2013) Tim Wang et al. SCIENCE
- Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes
- (2013) Slavé Petrovski et al. PLoS Genetics
- Cohort Profile: The ‘Children of the 90s’—the index offspring of the Avon Longitudinal Study of Parents and Children
- (2012) Andy Boyd et al. INTERNATIONAL JOURNAL OF EPIDEMIOLOGY
- Mouse large-scale phenotyping initiatives: overview of the European Mouse Disease Clinic (EUMODIC) and of the Wellcome Trust Sanger Institute Mouse Genetics Project
- (2012) Abdel Ayadi et al. MAMMALIAN GENOME
- The mammalian gene function resource: the international knockout mouse consortium
- (2012) Allan Bradley et al. MAMMALIAN GENOME
- Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes
- (2012) J. A. Tennessen et al. SCIENCE
- An Abundance of Rare Functional Variants in 202 Drug Target Genes Sequenced in 14,002 People
- (2012) M. R. Nelson et al. SCIENCE
- A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes
- (2012) D. G. MacArthur et al. SCIENCE
- Demographic history and rare allele sharing among human populations
- (2011) S. Gravel et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Fast and accurate long-read alignment with Burrows–Wheeler transform
- (2010) Heng Li et al. BIOINFORMATICS
- The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
- (2010) A. McKenna et al. GENOME RESEARCH
- Characterising and Predicting Haploinsufficiency in the Human Genome
- (2010) Ni Huang et al. PLoS Genetics
- The consensus coding sequence (CCDS) project: Identifying a common protein-coding gene set for the human and mouse genomes
- (2009) K. D. Pruitt et al. GENOME RESEARCH
- Common Genetic Variation and the Control of HIV-1 in Humans
- (2009) Jacques Fellay et al. PLoS Genetics
- The CoLaus study: a population-based study to investigate the epidemiology and genetic determinants of cardiovascular risk factors and metabolic syndrome
- (2008) Mathieu Firmann et al. BMC Cardiovascular Disorders
- Identification of human haploinsufficient genes and their genomic proximity to segmental duplications
- (2008) Vinh T Dang et al. EUROPEAN 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 MoreAdd your recorded webinar
Do you already have a recorded webinar? Grow your audience and get more views by easily listing your recording on Peeref.
Upload Now