Downloads provided by UsageCountsA draft human pangenome reference
Copyright policy )NIH| Center for Human Reference Genome Diversity ,
NIH| K-mer indexing for pan-genome reference annotation ,
EC| ALPACA ,
NIH| A Unified High Performance Web Service for Systems Genetics and Precision Medicine ,
WT| ENSEMBL ,
NIH| The WashU-UCSC-EBI Human Genome Reference Center ,
WT| Ensembl: A Comprehensive Reference Resource for Genomics ,
NSF| RESEARCH-PGR: Algorithms and Tools for Improving Genome Assemblies ,
NIH| Enabling Comparative Pangenomics ,
NIH| INFERRING CHROMOSOME ARCHITECTURE FROM GENOMIC SEQUENCE ,
NIH| The AnVIL Data Ecosystem ,
NIH| The construction and utility of reference pan-genome graphs ,
WT| The International Genome Sample Resource. ,
NSF| Collaborative Research: PPoSS: LARGE: Panorama: Integrated Rack-Scale Acceleration for Computational Pangenomics ,
NSERC| unidentified ,
NIH| Dockstore: The Community Platform for Reproducible Biomedical Workflows and Applications ,
NIH| Identifying and Characterizing the Full Spectrum of Haplotype-resolved Structural Variation in Human Genomes ,
NIH| Computational Methods for Microbial and Microbiome Sequence Analysis ,
NIH| Sequence and Assembly of Segmental Duplications ,
NIH| Representing structural haplotypes and complex genetic variation in pan-genome graphs ,
NIH| Detection and genotyping complex human genetic variation using single-molecule sequencing ,
NIH| Sequence resolution of complex human genome structural variation ,
NIH| Single-molecule sequence assembly and analysis ,
NIH| Computational tools for uniform processing and integration of human reference atlas data [2 of 5] ,
NIH| Improving detection and interpretation of clinically relevant structural variation ,
NIH| Computational Methods for Genome Assembly, Transcript Assembly, and Variant Discovery ,
NIH| GENCODE: comprehensive genome annotation for human and mouse ,
NIH| Telomere-to-telomere assemblies of human genomes
Wen-Wei Liao; Mobin Asri; Jana Ebler; Daniel Doerr; Marina Haukness; Glenn Hickey; Shuangjia Lu; +112 Authors
Wen-Wei Liao; Mobin Asri; Jana Ebler; Daniel Doerr; Marina Haukness; Glenn Hickey; Shuangjia Lu; Julian K. Lucas; Jean Monlong; Haley J. Abel; Silvia Buonaiuto; Xian H. Chang; Haoyu Cheng; Justin Chu; Vincenza Colonna; Jordan M. Eizenga; Xiaowen Feng; Christian Fischer; Robert S. Fulton; Shilpa Garg; Cristian Groza; Andrea Guarracino; William T. Harvey; Simon Heumos; Kerstin Howe; Miten Jain; Tsung-Yu Lu; Charles Markello; Fergal J. Martin; Matthew W. Mitchell; Katherine M. Munson; Moses Njagi Mwaniki; Adam M. Novak; Hugh E. Olsen; Trevor Pesout; David Porubsky; Pjotr Prins; Jonas A. Sibbesen; Jouni Sirén; Chad Tomlinson; Flavia Villani; Mitchell R. Vollger; Lucinda L. Antonacci-Fulton; Gunjan Baid; Carl A. Baker; Anastasiya Belyaeva; Konstantinos Billis; Andrew Carroll; Pi-Chuan Chang; Sarah Cody; Daniel E. Cook; Robert M. Cook-Deegan; Omar E. Cornejo; Mark Diekhans; Peter Ebert; Susan Fairley; Olivier Fedrigo; Adam L. Felsenfeld; Giulio Formenti; Adam Frankish; Yan Gao; Nanibaa’ A. Garrison; Carlos Garcia Giron; Richard E. Green; Leanne Haggerty; Kendra Hoekzema; Thibaut Hourlier; Hanlee P. Ji; Eimear E. Kenny; Barbara A. Koenig; Alexey Kolesnikov; Jan O. Korbel; Jennifer Kordosky; Sergey Koren; HoJoon Lee; Alexandra P. Lewis; Hugo Magalhães; Santiago Marco-Sola; Pierre Marijon; Ann McCartney; Jennifer McDaniel; Jacquelyn Mountcastle; Maria Nattestad; Sergey Nurk; Nathan D. Olson; Alice B. Popejoy; Daniela Puiu; Mikko Rautiainen; Allison A. Regier; Arang Rhie; Samuel Sacco; Ashley D. Sanders; Valerie A. Schneider; Baergen I. Schultz; Kishwar Shafin; Michael W. Smith; Heidi J. Sofia; Ahmad N. Abou Tayoun; Françoise Thibaud-Nissen; Francesca Floriana Tricomi; Justin Wagner; Brian Walenz; Jonathan M. D. Wood; Aleksey V. Zimin; Guillaume Bourque; Mark J. P. Chaisson; Paul Flicek; Adam M. Phillippy; Justin M. Zook; Evan E. Eichler; David Haussler; Ting Wang; Erich D. Jarvis; Karen H. Miga; Erik Garrison; Tobias Marschall; Ira M. Hall; Heng Li; Benedict Paten;
A draft human pangenome reference
AbstractHere the Human Pangenome Reference Consortium presents a first draft of the human pangenome reference. The pangenome contains 47 phased, diploid assemblies from a cohort of genetically diverse individuals1. These assemblies cover more than 99% of the expected sequence in each genome and are more than 99% accurate at the structural and base pair levels. Based on alignments of the assemblies, we generate a draft pangenome that captures known variants and haplotypes and reveals new alleles at structurally complex loci. We also add 119 million base pairs of euchromatic polymorphic sequences and 1,115 gene duplications relative to the existing reference GRCh38. Roughly 90 million of the additional base pairs are derived from structural variation. Using our draft pangenome to analyse short-read data reduced small variant discovery errors by 34% and increased the number of structural variants detected per haplotype by 104% compared with GRCh38-based workflows, which enabled the typing of the vast majority of structural variant alleles per sample.
- University of California, Los Angeles United States
- University of Copenhagen Denmark
- Technical University of Denmark Denmark
- National Research Council Italy
- Stanford University United States
Cancer Research, General Science & Technology, General Science & Technology (science-metrix), 610, human pangenome, Human (mesh), Genome informatics, 3105 Genetics (for-2020), Article, Cohort Studies, Àrees temàtiques de la UPC::Informàtica::Aplicacions de la informàtica::Bioinformàtica, Genome assembly algorithms, Medicine and Health Sciences, Genetics, 2.1 Biological and endogenous factors, Humans, Reference Standards (mesh), Genetic Variation (mesh), Alleles, Humans (mesh), 31 Biological Sciences (for-2020), Genome, Genetics (rcdc), Genome, Human, Cohort Studies (mesh), Generic health relevance (hrcs-hc), ICTS (Institute of Clinical and Translational Sciences), Genetic Variation, 500, 600, DNA, 2.1 Biological and endogenous factors (hrcs-rac), Sequence Analysis, DNA, Genomics, Biological Sciences, Reference Standards, 1.5 Resources and infrastructure (underpinning), Diploidy, 1.5 Resources and infrastructure (underpinning) (hrcs-rac), Haplotypes, Genomics (mesh), Alleles (mesh), Generic health relevance, DNA (mesh), Diploidy (mesh), Genes, Cells and Cell-Based Medicine [Topic 1], Sequence Analysis, Haplotypes (mesh), Human
Cancer Research, General Science & Technology, General Science & Technology (science-metrix), 610, human pangenome, Human (mesh), Genome informatics, 3105 Genetics (for-2020), Article, Cohort Studies, Àrees temàtiques de la UPC::Informàtica::Aplicacions de la informàtica::Bioinformàtica, Genome assembly algorithms, Medicine and Health Sciences, Genetics, 2.1 Biological and endogenous factors, Humans, Reference Standards (mesh), Genetic Variation (mesh), Alleles, Humans (mesh), 31 Biological Sciences (for-2020), Genome, Genetics (rcdc), Genome, Human, Cohort Studies (mesh), Generic health relevance (hrcs-hc), ICTS (Institute of Clinical and Translational Sciences), Genetic Variation, 500, 600, DNA, 2.1 Biological and endogenous factors (hrcs-rac), Sequence Analysis, DNA, Genomics, Biological Sciences, Reference Standards, 1.5 Resources and infrastructure (underpinning), Diploidy, 1.5 Resources and infrastructure (underpinning) (hrcs-rac), Haplotypes, Genomics (mesh), Alleles (mesh), Generic health relevance, DNA (mesh), Diploidy (mesh), Genes, Cells and Cell-Based Medicine [Topic 1], Sequence Analysis, Haplotypes (mesh), Human
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This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
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This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
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