Shared sequences and structural variants between genomes in Human Pangenome Reference
The Human Pangenome Reference is a collection of genomes from a diverse cohort of individuals compiled by the Human Pangenome Reference Consortium (HPRC).
This first draft pangenome comprises 47 phased, diploid assemblies from a diverse cohort of individuals and was intended to capture the genetic diversity of the human population. The development of this pangenome seeks to address perceived shortcomings in the current human reference genome by offering a more comprehensive and inclusive resource for genomic research and analysis.[1]
The pangenome concept, originating from the study of prokaryotes, has been extended to multicellular eukaryotic organisms, including humans. The human pangenome has significant implications for population genetics, phylogenetics, and public health policy, as it can inform the genetic basis of diseases and personalized treatments by providing insights into the genetic diversity of human populations.[2]
The new human pangenome reference integrates the missing 8% of the human genome sequence, adding over 100 million new bases. It aims to capture more population diversity than the previous reference sequence and is based on 94 high-quality haploid assemblies from individuals with broad genetic diversity. The generation of this reference genome focuses on eliminating gaps, incorporating complex genomic sequence features, and encompassing a broader spectrum of human genome diversity.[3]
The HumanPangenomeReference is a collection of genomes from a diverse cohort of individuals compiled by the HumanPangenomeReference Consortium (HPRC)...
Bengali people. The HumanPangenome Project, which started its initial phase in 2019 with the creation of the HumanPangenomeReference Consortium, seeks...
set of chromosomes. Most human cells are diploid so they contain twice as much DNA. In 2023, a draft humanpangenomereference was published. It is based...
Miga is the director of the HumanPangenome Production Center that seeks to contribute to the next humanpangenomereference map through the creation of...
Genetic Terms Humanreference genome Samorodnitsky, Dan (2020-11-09). "The NIH is turning the humanreference genome into a pangenome". Massive Science...
genomes project to explore human genetic variation, the HumanPangenomeReference Consortium to replace the single referencehuman genome with a collection...
by merging pangenomes of annotated species; in the second tier, the algorithm performs a mapping of the reads against the assembled pangenome database;...
(the pangenome) exceeds 16,000. This very large variety of component genes has been interpreted to mean that two-thirds of the E. coli pangenome originated...
Merhej, V.; Fournier, P.-E.; Raoult, D. (September 2015). "The bacterial pangenome as a new tool for analysing pathogenic bacteria". New Microbes and New...
Myers GS, Mongodin EF, Fricke WF, Gajer P, et al. (October 2008). "The pangenome structure of Escherichia coli: comparative genomic analysis of E. coli...
Hauser, Loren J.; Schadt, Christopher W.; Gorin, Andrey A. (2015). "PanFP: pangenome-based functional profiles for microbial communities". BMC Research Notes...
Jarvis, E; Hall, I; Eichler, E; Haussler, D (April 20, 2022). "The HumanPangenome Project: a global resource to map genomic diversity". Science. 604...
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