Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly
出版年份 2017 全文链接
标题
Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly
作者
关键词
-
出版物
GENOME RESEARCH
Volume 27, Issue 5, Pages 849-864
出版商
Cold Spring Harbor Laboratory
发表日期
2017-04-11
DOI
10.1101/gr.213611.116
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。- De novo assembly and phasing of a Korean human genome
- (2016) Jeong-Sun Seo et al. NATURE
- Phased diploid genome assembly with single-molecule real-time sequencing
- (2016) Chen-Shan Chin et al. NATURE METHODS
- Long-read sequencing and de novo assembly of a Chinese genome
- (2016) Lingling Shi et al. Nature Communications
- Extensive sequencing of seven human genomes to characterize benchmark reference materials
- (2016) Justin M. Zook et al. Scientific Data
- FermiKit: assembly-based variant calling for Illumina resequencing data
- (2015) Heng Li BIOINFORMATICS
- Assessing structural variation in a personal genome—towards a human reference diploid genome
- (2015) Adam C English et al. BMC GENOMICS
- Building a Pan-Genome Reference for a Population
- (2015) Ngan Nguyen et al. JOURNAL OF COMPUTATIONAL BIOLOGY
- A global reference for human genetic variation
- (2015) Richard A. Gibbs et al. NATURE
- De novo assembly of a haplotype-resolved human genome
- (2015) Hongzhi Cao et al. NATURE BIOTECHNOLOGY
- Assembling large genomes with single-molecule sequencing and locality-sensitive hashing
- (2015) Konstantin Berlin et al. NATURE BIOTECHNOLOGY
- Improved genome inference in the MHC using a population reference graph
- (2015) Alexander Dilthey et al. NATURE GENETICS
- Assembly and diploid architecture of an individual human genome via single-molecule technologies
- (2015) Matthew Pendleton et al. NATURE METHODS
- Genetic variation and the de novo assembly of human genomes
- (2015) Mark J. P. Chaisson et al. NATURE REVIEWS GENETICS
- Assembly: a resource for assembled genomes at NCBI
- (2015) Paul A. Kitts et al. NUCLEIC ACIDS RESEARCH
- Utilizing mapping targets of sequences underrepresented in the reference assembly to reduce false positive alignments
- (2015) Karen H. Miga et al. NUCLEIC ACIDS RESEARCH
- Reference sequence (RefSeq) database at NCBI: current status, taxonomic expansion, and functional annotation
- (2015) Nuala A. O'Leary et al. NUCLEIC ACIDS RESEARCH
- Sharing and Specificity of Co-expression Networks across 35 Human Tissues
- (2015) Emma Pierson et al. PLoS Computational Biology
- Extending reference assembly models
- (2015) Deanna M Church et al. GENOME BIOLOGY
- Using optical mapping data for the improvement of vertebrate genome assemblies
- (2015) Kerstin Howe et al. GigaScience
- A Naturally Occurring Null Variant of the NMDA Type Glutamate Receptor NR3B Subunit Is a Risk Factor of Schizophrenia
- (2015) Hitomi Matsuno et al. PLoS One
- Toward better understanding of artifacts in variant calling from high-coverage samples
- (2014) Heng Li BIOINFORMATICS
- Sequencing of the human IG light chain loci from a hydatidiform mole BAC library reveals locus-specific signatures of genetic diversity
- (2014) C T Watson et al. GENES AND IMMUNITY
- Single haplotype assembly of the human genome from a hydatidiform mole
- (2014) Karyn Meltz Steinberg et al. GENOME RESEARCH
- Centromere reference models for human chromosomes X and Y satellite arrays
- (2014) K. H. Miga et al. GENOME RESEARCH
- Reconstructing complex regions of genomes using long-read sequencing technology
- (2014) J. Huddleston et al. GENOME RESEARCH
- Resolving the complexity of the human genome using single-molecule sequencing
- (2014) Mark J. P. Chaisson et al. NATURE
- Integrating human sequence data sets provides a resource of benchmark SNP and indel genotype calls
- (2014) Justin M Zook et al. NATURE BIOTECHNOLOGY
- Palindromic GOLGA8 core duplicons promote chromosome 15q13.3 microdeletion and evolutionary instability
- (2014) Francesca Antonacci et al. NATURE GENETICS
- A framework for the interpretation of de novo mutation in human disease
- (2014) Kaitlin E Samocha et al. NATURE GENETICS
- Pilon: An Integrated Tool for Comprehensive Microbial Variant Detection and Genome Assembly Improvement
- (2014) Bruce J. Walker et al. PLoS One
- Mapping the Human Reference Genome’s Missing Sequence by Three-Way Admixture in Latino Genomes
- (2013) Giulio Genovese et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Complete Haplotype Sequence of the Human Immunoglobulin Heavy-Chain Variable, Diversity, and Joining Genes and Characterization of Allelic and Copy-Number Variation
- (2013) Corey T. Watson et al. AMERICAN JOURNAL OF HUMAN GENETICS
- HAL: a hierarchical format for storing and analyzing multiple genome alignments
- (2013) Glenn Hickey et al. BIOINFORMATICS
- CrossMap: a versatile tool for coordinate conversion between genome assemblies
- (2013) Hao Zhao et al. BIOINFORMATICS
- Independent specialization of the human and mouse X chromosomes for the male germ line
- (2013) Jacob L Mueller et al. NATURE GENETICS
- Using population admixture to help complete maps of the human genome
- (2013) Giulio Genovese et al. NATURE GENETICS
- Nonhybrid, finished microbial genome assemblies from long-read SMRT sequencing data
- (2013) Chen-Shan Chin et al. NATURE METHODS
- ClinVar: public archive of relationships among sequence variation and human phenotype
- (2013) Melissa J. Landrum et al. NUCLEIC ACIDS RESEARCH
- Assemblathon 2: evaluating de novo methods of genome assembly in three vertebrate species
- (2013) Keith R Bradnam et al. GigaScience
- Evolution of Human-Specific Neural SRGAP2 Genes by Incomplete Segmental Duplication
- (2012) Megan Y. Dennis et al. CELL
- GENCODE: The reference human genome annotation for The ENCODE Project
- (2012) J. Harrow et al. GENOME RESEARCH
- DNA template strand sequencing of single-cells maps genomic rearrangements at high resolution
- (2012) Ester Falconer et al. NATURE METHODS
- Clone DB: an integrated NCBI resource for clone-associated data
- (2012) Valerie A. Schneider et al. NUCLEIC ACIDS RESEARCH
- Limitations of the Human Reference Genome for Personalized Genomics
- (2012) Jeffrey A. Rosenfeld et al. PLoS One
- Reevaluating Assembly Evaluations with Feature Response Curves: GAGE and Assemblathons
- (2012) Francesco Vezzi et al. PLoS One
- Assemblathon 1: A competitive assessment of de novo short read assembly methods
- (2011) D. Earl et al. GENOME RESEARCH
- Efficient storage of high throughput DNA sequencing data using reference-based compression
- (2011) M. Hsi-Yang Fritz et al. GENOME RESEARCH
- Genome Assembly Has a Major Impact on Gene Content: A Comparison of Annotation in Two Bos Taurus Assemblies
- (2011) Liliana Florea et al. PLoS One
- Modernizing Reference Genome Assemblies
- (2011) Deanna M. Church et al. PLOS BIOLOGY
- The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
- (2010) A. McKenna et al. GENOME RESEARCH
- A map of human genome variation from population-scale sequencing
- (2010) Richard M. Durbin et al. NATURE
- Different Patterns of Evolution in the Centromeric and Telomeric Regions of Group A and B Haplotypes of the Human Killer Cell Ig-Like Receptor Locus
- (2010) Chul-Woo Pyo et al. PLoS One
- High-resolution human genome structure by single-molecule analysis
- (2010) B. Teague et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Diversity of Human Copy Number Variation and Multicopy Genes
- (2010) Peter H. Sudmant et al. SCIENCE
- A Draft Sequence of the Neandertal Genome
- (2010) R. E. Green et al. SCIENCE
- Building the sequence map of the human pan-genome
- (2009) Ruiqiang Li et al. NATURE BIOTECHNOLOGY
- Adaptive Evolution of UGT2B17 Copy-Number Variation
- (2008) Yali Xue et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Variation analysis and gene annotation of eight MHC haplotypes: The MHC Haplotype Project
- (2008) Roger Horton et al. IMMUNOGENETICS
- The diploid genome sequence of an Asian individual
- (2008) Jun Wang et al. NATURE
- Mapping and sequencing of structural variation from eight human genomes
- (2008) Jeffrey M. Kidd et al. NATURE
- Evolutionary toggling of the MAPT 17q21.31 inversion region
- (2008) Michael C Zody et al. NATURE GENETICS
Discover Peeref hubs
Discuss science. Find collaborators. Network.
Join a conversationAsk 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