Haplotype-resolved de novo assembly of a Tujia genome suggests the necessity for high-quality population-specific genome references
出版年份 2022 全文链接
标题
Haplotype-resolved de novo assembly of a Tujia genome suggests the necessity for high-quality population-specific genome references
作者
关键词
de novo, assembly, Tujia, population-specific reference genome, haploid genome, structural variation, variant calling, population genetics, medical practice
出版物
Cell Systems
Volume -, Issue -, Pages -
出版商
Elsevier BV
发表日期
2022-02-17
DOI
10.1016/j.cels.2022.01.006
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。- Construction and integration of three de novo Japanese human genome assemblies toward a population-specific reference
- (2021) Jun Takayama et al. Nature Communications
- Haplotype-resolved diverse human genomes and integrated analysis of structural variation
- (2021) Peter Ebert et al. SCIENCE
- The Need for a Human Pangenome Reference Sequence
- (2021) Karen H. Miga et al. Annual Review of Genomics and Human Genetics
- Pan-genomics in the human genome era
- (2020) Rachel M. Sherman et al. NATURE REVIEWS GENETICS
- GenMap: ultra-fast computation of genome mappability
- (2020) Christopher Pockrandt et al. BIOINFORMATICS
- A structural variation reference for medical and population genetics
- (2020) Ryan L. Collins et al. NATURE
- Insights into human genetic variation and population history from 929 diverse genomes
- (2020) Anders Bergström et al. SCIENCE
- Fine‐scale genetic structure of Tujia and central Han Chinese revealing massive genetic admixture under language borrowing
- (2020) Guanglin He et al. Journal of Systematics and Evolution
- PBSIM2: a simulator for long read sequencers with a novel generative model of quality scores
- (2020) Yukiteru Ono et al. BIOINFORMATICS
- Metascape provides a biologist-oriented resource for the analysis of systems-level datasets
- (2019) Yingyao Zhou et al. Nature Communications
- Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome
- (2019) Aaron M. Wenger et al. NATURE BIOTECHNOLOGY
- Whole Genome Analyses of Chinese Population and De Novo Assembly of A Northern Han Genome
- (2019) Zhenglin Du et al. GENOMICS PROTEOMICS & BIOINFORMATICS
- Accurate, scalable and integrative haplotype estimation
- (2019) Olivier Delaneau et al. Nature Communications
- De novo assembly of a Tibetan genome and identification of novel structural variants associated with high altitude adaptation
- (2019) et al. National Science Review
- Minimap2: pairwise alignment for nucleotide sequences
- (2018) Heng Li BIOINFORMATICS
- OUP accepted manuscript
- (2018) BIOINFORMATICS
- A synthetic-diploid benchmark for accurate variant-calling evaluation
- (2018) Heng Li et al. NATURE METHODS
- Accurate detection of complex structural variations using single-molecule sequencing
- (2018) Fritz J. Sedlazeck et al. NATURE METHODS
- Variation graph toolkit improves read mapping by representing genetic variation in the reference
- (2018) Erik Garrison et al. NATURE BIOTECHNOLOGY
- AIM-SNPtag: A computationally efficient approach for developing ancestry-informative SNP panels
- (2018) Shilei Zhao et al. Forensic Science International-Genetics
- De Novo Assembly of Two Swedish Genomes Reveals Missing Segments from the Human GRCh38 Reference and Improves Variant Calling of Population-Scale Sequencing Data
- (2018) Adam Ameur et al. Genes
- The impact of rare variation on gene expression across tissues
- (2017) Xin Li et al. NATURE
- Graphtyper enables population-scale genotyping using pangenome graphs
- (2017) Hannes P Eggertsson et al. NATURE GENETICS
- De novo assembly of the Aedes aegypti genome using Hi-C yields chromosome-length scaffolds
- (2017) Olga Dudchenko et al. SCIENCE
- Ancestral Origins and Genetic History of Tibetan Highlanders
- (2016) Dongsheng Lu et al. AMERICAN JOURNAL OF HUMAN GENETICS
- De novo assembly and phasing of a Korean human genome
- (2016) Jeong-Sun Seo et al. NATURE
- The Simons Genome Diversity Project: 300 genomes from 142 diverse populations
- (2016) Swapan Mallick 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
- Juicer Provides a One-Click System for Analyzing Loop-Resolution Hi-C Experiments
- (2016) Neva C. Durand et al. Cell Systems
- Manta: rapid detection of structural variants and indels for germline and cancer sequencing applications
- (2015) Xiaoyu Chen et al. BIOINFORMATICS
- selscan: An Efficient Multithreaded Program to Perform EHH-Based Scans for Positive Selection
- (2014) Z. A. Szpiech et al. MOLECULAR BIOLOGY AND EVOLUTION
- Ancient human genomes suggest three ancestral populations for present-day Europeans
- (2014) Iosif Lazaridis et al. NATURE
- Inferring human population size and separation history from multiple genome sequences
- (2014) Stephan Schiffels 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
- The function of targeted host genes determines the oncogenicity of HBV integration in hepatocellular carcinoma
- (2013) Xiaojun Li et al. JOURNAL OF HEPATOLOGY
- Nonhybrid, finished microbial genome assemblies from long-read SMRT sequencing data
- (2013) Chen-Shan Chin et al. NATURE METHODS
- The Database of Genomic Variants: a curated collection of structural variation in the human genome
- (2013) Jeffrey R. MacDonald et al. NUCLEIC ACIDS RESEARCH
- A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff
- (2012) Pablo Cingolani et al. FLY
- Common genetic variants in the CLDN2 and PRSS1-PRSS2 loci alter risk for alcohol-related and sporadic pancreatitis
- (2012) David C Whitcomb et al. NATURE GENETICS
- CNVnator: An approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing
- (2011) A. Abyzov et al. GENOME RESEARCH
- Integrative genomics viewer
- (2011) James T Robinson et al. NATURE BIOTECHNOLOGY
- Fast and accurate long-read alignment with Burrows–Wheeler transform
- (2010) Heng Li et al. BIOINFORMATICS
- Characterization of missing human genome sequences and copy-number polymorphic insertions
- (2010) Jeffrey M Kidd et al. NATURE METHODS
- The Sequence Alignment/Map format and SAMtools
- (2009) H. Li et al. BIOINFORMATICS
- Claudin-16 and claudin-19 interaction is required for their assembly into tight junctions and for renal reabsorption of magnesium
- (2009) J. Hou et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
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