- Home
- Publications
- Publication Search
- Publication Details
Title
De novo assembly of a haplotype-resolved human genome
Authors
Keywords
-
Journal
NATURE BIOTECHNOLOGY
Volume 33, Issue 6, Pages 617-622
Publisher
Springer Nature
Online
2015-05-26
DOI
10.1038/nbt.3200
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Integrating human sequence data sets provides a resource of benchmark SNP and indel genotype calls
- (2014) Justin M Zook et al. NATURE BIOTECHNOLOGY
- A Short-Read Multiplex Sequencing Method for Reliable, Cost-Effective and High-Throughput Genotyping in Large-Scale Studies
- (2013) Hongzhi Cao et al. HUMAN MUTATION
- The haplotype-resolved genome and epigenome of the aneuploid HeLa cancer cell line
- (2013) Andrew Adey et al. NATURE
- Integrative Annotation of Variants from 1092 Humans: Application to Cancer Genomics
- (2013) Ekta Khurana et al. SCIENCE
- Genomic Patterns of Homozygosity in Worldwide Human Populations
- (2012) Trevor J. Pemberton et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Accurate whole-genome sequencing and haplotyping from 10 to 20 human cells
- (2012) Brock A. Peters et al. NATURE
- The oyster genome reveals stress adaptation and complexity of shell formation
- (2012) Guofan Zhang et al. NATURE
- Comprehensive analysis of RNA-Seq data reveals extensive RNA editing in a human transcriptome
- (2012) Zhiyu Peng et al. NATURE BIOTECHNOLOGY
- SOAPdenovo2: an empirically improved memory-efficient short-read de novo assembler
- (2012) Ruibang Luo et al. GigaScience
- A comprehensively molecular haplotype-resolved genome of a European individual
- (2011) E.-K. Suk et al. GENOME RESEARCH
- Structural variation in two human genomes mapped at single-nucleotide resolution by whole genome de novo assembly
- (2011) Yingrui Li et al. NATURE BIOTECHNOLOGY
- Performance comparison of whole-genome sequencing platforms
- (2011) Hugo Y K Lam et al. NATURE BIOTECHNOLOGY
- A framework for variation discovery and genotyping using next-generation DNA sequencing data
- (2011) Mark A DePristo et al. NATURE GENETICS
- Causal mutations in a haploid landscape
- (2011) Nicole Rusk NATURE METHODS
- The importance of phase information for human genomics
- (2011) Ryan Tewhey et al. NATURE REVIEWS GENETICS
- Haplotype phasing: existing methods and new developments
- (2011) Sharon R. Browning et al. NATURE REVIEWS GENETICS
- Genome structural variation discovery and genotyping
- (2011) Can Alkan et al. NATURE REVIEWS GENETICS
- Fosmid-based whole genome haplotyping of a HapMap trio child: evaluation of Single Individual Haplotyping techniques
- (2011) Jorge Duitama et al. NUCLEIC ACIDS RESEARCH
- MaCH: using sequence and genotype data to estimate haplotypes and unobserved genotypes
- (2010) Yun Li et al. GENETIC EPIDEMIOLOGY
- A map of human genome variation from population-scale sequencing
- (2010) Richard M. Durbin et al. NATURE
- Whole-genome molecular haplotyping of single cells
- (2010) H Christina Fan et al. NATURE BIOTECHNOLOGY
- Haplotype-resolved genome sequencing of a Gujarati Indian individual
- (2010) Jacob O Kitzman et al. NATURE BIOTECHNOLOGY
- Transcript assembly and quantification by RNA-Seq reveals unannotated transcripts and isoform switching during cell differentiation
- (2010) Cole Trapnell et al. NATURE BIOTECHNOLOGY
- A method and server for predicting damaging missense mutations
- (2010) Ivan A Adzhubei et al. NATURE METHODS
- ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
- (2010) K. Wang et al. NUCLEIC ACIDS RESEARCH
- Genomic Runs of Homozygosity Record Population History and Consanguinity
- (2010) Mirna Kirin et al. PLoS One
- The DNA Methylome of Human Peripheral Blood Mononuclear Cells
- (2010) Yingrui Li et al. PLOS BIOLOGY
- Sequencing and analysis of an Irish human genome
- (2010) Pin Tong et al. GENOME BIOLOGY
- Fast and accurate short read alignment with Burrows-Wheeler transform
- (2009) H. Li et al. BIOINFORMATICS
- The first Korean genome sequence and analysis: Full genome sequencing for a socio-ethnic group
- (2009) S.-M. Ahn et al. GENOME RESEARCH
- SNP detection for massively parallel whole-genome resequencing
- (2009) R. Li et al. GENOME RESEARCH
- Building the sequence map of the human pan-genome
- (2009) Ruiqiang Li et al. NATURE BIOTECHNOLOGY
- Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources
- (2009) Da Wei Huang et al. Nature Protocols
- The diploid genome sequence of an Asian individual
- (2008) Jun Wang et al. NATURE
- Accurate whole human genome sequencing using reversible terminator chemistry
- (2008) David R. Bentley et al. NATURE
- SNP-specific extraction of haplotype-resolved targeted genomic regions
- (2008) J. Dapprich et al. NUCLEIC ACIDS RESEARCH
- Bioinformatics enrichment tools: paths toward the comprehensive functional analysis of large gene lists
- (2008) Da Wei Huang et al. NUCLEIC ACIDS RESEARCH
Add 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 NowBecome a Peeref-certified reviewer
The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.
Get Started