Is it time to change the reference genome?
暂无分享,去创建一个
[1] Grace Tiao,et al. An open resource of structural variation for medical and population genetics , 2019 .
[2] Ira M. Hall,et al. Genomic Analysis in the Age of Human Genome Sequencing , 2019, Cell.
[3] Scott M. Williams,et al. The Missing Diversity in Human Genetic Studies , 2019, Cell.
[4] Ryan L. Collins,et al. Variation across 141,456 human exomes and genomes reveals the spectrum of loss-of-function intolerance across human protein-coding genes , 2019, bioRxiv.
[5] Evan E. Eichler,et al. Characterizing the Major Structural Variant Alleles of the Human Genome , 2019, Cell.
[6] Rachel M. Sherman,et al. Assembly of a pan-genome from deep sequencing of 910 humans of African descent , 2018, Nature Genetics.
[7] Jinze Liu,et al. iMapSplice: Alleviating reference bias through personalized RNA-seq alignment , 2018, PloS one.
[8] William Jones,et al. Variation graph toolkit improves read mapping by representing genetic variation in the reference , 2018, Nature Biotechnology.
[9] Deborah A. Bolnick,et al. A framework for enhancing ethical genomic research with Indigenous communities , 2018, Nature Communications.
[10] Veli Mäkinen,et al. Towards pan-genome read alignment to improve variation calling , 2018, BMC Genomics.
[11] Nae-Chyun Chen,et al. FORGe: prioritizing variants for graph genomes , 2018, Genome Biology.
[12] Juan Carlos Castilla-Rubio,et al. Earth BioGenome Project: Sequencing life for the future of life , 2018, Proceedings of the National Academy of Sciences.
[13] A. Predeus,et al. Catching hidden variation: systematic correction of reference minor allele annotation in clinical variant calling , 2017, Genetics in Medicine.
[14] M. Ibrahim,et al. Challenges imposed by minor reference alleles on the identification and reporting of clinical variants from exome data , 2018, BMC Genomics.
[15] Carol J. Bult,et al. The Mouseion at the JAXlibrary , 2022 .
[16] Wan-Ping Lee,et al. Fast and accurate genomic analyses using genome graphs , 2019, Nature Genetics.
[17] The Computational Pan-Genomics Consortium,et al. Computational pan-genomics: status, promises and challenges , 2018, Briefings Bioinform..
[18] Wendy S. Schackwitz,et al. Extensive gene content variation in the Brachypodium distachyon pan-genome correlates with population structure , 2017, Nature Communications.
[19] Lily Hoffman-Andrews. The known unknown: the challenges of genetic variants of uncertain significance in clinical practice , 2017, Journal of law and the biosciences.
[20] D. Cohen,et al. Publisher's Note , 2017, Neuroscience & Biobehavioral Reviews.
[21] Jordan M. Eizenga,et al. Genome graphs and the evolution of genome inference , 2017, bioRxiv.
[22] R. Durbin,et al. Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly , 2016, bioRxiv.
[23] Yan Guo,et al. Improvements and impacts of GRCh38 human reference on high throughput sequencing data analysis. , 2017, Genomics.
[24] S. Srinivasan,et al. hg19K: addressing a significant lacuna in hg19‐based variant calling , 2016, Molecular genetics & genomic medicine.
[25] S. Hilgartner,et al. Bermuda 2.0: reflections from Santa Cruz , 2016, GigaScience.
[26] Geir Kjetil Sandve,et al. Coordinates and intervals in graph-based reference genomes , 2017, BMC Bioinformatics.
[27] Sara Goodwin,et al. Oxford Nanopore sequencing, hybrid error correction, and de novo assembly of a eukaryotic genome , 2015, bioRxiv.
[28] Eric Banks,et al. Tools and best practices for data processing in allelic expression analysis , 2015, Genome Biology.
[29] Jonathan K. Pritchard,et al. WASP: allele-specific software for robust molecular quantitative trait locus discovery , 2015, Nature Methods.
[30] T. Furey,et al. Removing reference mapping biases using limited or no genotype data identifies allelic differences in protein binding at disease-associated loci , 2015, BMC Medical Genomics.
[31] J. M. Harvey,et al. The Use of Non-Variant Sites to Improve the Clinical Assessment of Whole-Genome Sequence Data , 2015, PloS one.
[32] B. Giusti,et al. Characterization and identification of hidden rare variants in the human genome , 2015, BMC Genomics.
[33] Gunnar Rätsch,et al. MMR: a tool for read multi-mapper resolution , 2015, bioRxiv.
[34] H. Rehm,et al. Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology , 2015, Genetics in Medicine.
[35] Mark J. P. Chaisson,et al. Resolving the complexity of the human genome using single-molecule sequencing , 2014, Nature.
[36] Richard Durbin,et al. Extending reference assembly models , 2015, Genome Biology.
[37] Michael C. Schatz,et al. Oxford Nanopore Sequencing, Hybrid Error Correction, and de novo Assembly of a Eukaryotic Genome , 2015 .
[38] Maria Gutierrez-Arcelus,et al. Allelic mapping bias in RNA-sequencing is not a major confounder in eQTL studies , 2014, Genome Biology.
[39] Sergey A. Shiryev,et al. Single haplotype assembly of the human genome from a hydatidiform mole , 2014, bioRxiv.
[40] P. Wittkopp,et al. Sources of bias in measures of allele-specific expression derived from RNA-seq data aligned to a single reference genome , 2013, BMC Genomics.
[41] Christian Schlötterer,et al. Allelic imbalance metre (Allim), a new tool for measuring allele-specific gene expression with RNA-seq data , 2013, Molecular ecology resources.
[42] Shuai Yuan,et al. Read-mapping using personalized diploid reference genome for RNA sequencing data reduced bias for detecting allele-specific expression , 2012, 2012 IEEE International Conference on Bioinformatics and Biomedicine Workshops.
[43] Todd M. Smith,et al. Limitations of the Human Reference Genome for Personalized Genomics , 2012, PloS one.
[44] M. Schatz,et al. Hybrid error correction and de novo assembly of single-molecule sequencing reads , 2012, Nature Biotechnology.
[45] J. Reifman,et al. A new strategy to reduce allelic bias in RNA-Seq readmapping , 2012, Nucleic acids research.
[46] S. Salzberg,et al. Repetitive DNA and next-generation sequencing: computational challenges and solutions , 2012, Nature Reviews Genetics.
[47] S. Salzberg,et al. Repetitive DNA and next-generation sequencing: computational challenges and solutions , 2011, Nature Reviews Genetics.
[48] Omar E. Cornejo,et al. Phased Whole-Genome Genetic Risk in a Family Quartet Using a Major Allele Reference Sequence , 2011, PLoS genetics.
[49] Mark Gerstein,et al. Gene inactivation and its implications for annotation in the era of personal genomics. , 2011, Genes & development.
[50] Rong Chen,et al. The Reference Human Genome Demonstrates High Risk of Type 1 Diabetes and Other Disorders , 2011, Pacific Symposium on Biocomputing.
[51] David R. Kelley,et al. Quake: quality-aware detection and correction of sequencing errors , 2010, Genome Biology.
[52] D. Altshuler,et al. A map of human genome variation from population-scale sequencing , 2010, Nature.
[53] Jianrong Wang,et al. A Gibbs sampling strategy applied to the mapping of ambiguous short-sequence tags , 2010, Bioinform..
[54] M. Schatz,et al. Assembly of large genomes using second-generation sequencing. , 2010, Genome research.
[55] C. DeLisi,et al. Phenotypic connections in surprising places , 2010, Genome Biology.
[56] David Haussler,et al. Cactus Graphs for Genome Comparisons , 2010, RECOMB.
[57] Lars Bolund,et al. Building the sequence map of the human pan-genome , 2010, Nature Biotechnology.
[58] Steven Alan Samson. E pluribus unum , 2010, Nature Methods.
[59] Mihai Pop,et al. Assembly complexity of prokaryotic genomes using short reads , 2010, BMC Bioinformatics.
[60] Dmitry Pushkarev,et al. Single-molecule sequencing of an individual human genome , 2009, Nature Biotechnology.
[61] Thomas D. Wu,et al. A highly annotated whole-genome sequence of a Korean individual , 2009, Nature.
[62] Dawei Li,et al. The diploid genome sequence of an Asian individual , 2008, Nature.
[63] Nancy F. Hansen,et al. Accurate Whole Human Genome Sequencing using Reversible Terminator Chemistry , 2008, Nature.
[64] Charles DeLisi,et al. Meetings that changed the world: Santa Fe 1986: Human genome baby-steps , 2008, Nature.
[65] M. Enserink. Read All About It--The First Female Genome! Or Is It? , 2008, Science.
[66] J. Lupski,et al. The complete genome of an individual by massively parallel DNA sequencing , 2008, Nature.
[67] Zhaohui S. Qin,et al. A second generation human haplotype map of over 3.1 million SNPs , 2007, Nature.
[68] Timothy B. Stockwell,et al. The Diploid Genome Sequence of an Individual Human , 2007, PLoS biology.
[69] G. van Ommen,et al. The Facioscapulohumeral muscular dystrophy region on 4qter and the homologous locus on 10qter evolved independently under different evolutionary pressure , 2007, BMC Medical Genetics.
[70] H. Tettelin,et al. The microbial pan-genome. , 2005, Current opinion in genetics & development.
[71] A. Weiner,et al. E Pluribus Unum: 3' end formation of polyadenylated mRNAs, histone mRNAs, and U snRNAs. , 2005, Molecular cell.
[72] E. Lander,et al. Finishing the euchromatic sequence of the human genome , 2004 .
[73] J. Bonfield,et al. Finishing the euchromatic sequence of the human genome , 2004, Nature.
[74] International Human Genome Sequencing Consortium. Finishing the euchromatic sequence of the human genome , 2004 .
[75] Toshihiro Tanaka. The International HapMap Project , 2003, Nature.
[76] R. Davis. The SI unit of mass , 2003 .
[77] Timothy B. Stockwell,et al. The Sequence of the Human Genome , 2001, Science.
[78] J. V. Moran,et al. Initial sequencing and analysis of the human genome. , 2001, Nature.
[79] International Human Genome Sequencing Consortium. Initial sequencing and analysis of the human genome , 2001, Nature.
[80] Manish S. Shah,et al. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes , 1993, Cell.
[81] B. Vogelstein,et al. p53 mutations in human cancers. , 1991, Science.
[82] H. Cann,et al. Centre d'etude du polymorphisme humain (CEPH): collaborative genetic mapping of the human genome. , 1990, Genomics.
[83] R. Sinsheimer,et al. The Santa Cruz Workshop--May 1985. , 1989, Genomics.
[84] Joseph Palca,et al. Human genome: Department of Energy on the map , 1986, Nature.