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https://doi.org/10.21203/rs.3....
Article . 2023 . Peer-reviewed
License: CC BY
Data sources: Crossref
https://doi.org/10.2139/ssrn.4...
Article . 2024 . Peer-reviewed
Data sources: Crossref
https://doi.org/10.1101/2024.0...
Article . 2024 . Peer-reviewed
Data sources: Crossref
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A Draft Arab Pangenome Reference

Authors: Nasna Nassir; Mohamed A. Almarri; Muhammad Kumail; Nesrin Mohamed; Bipin Balan; Shehzad Hanif; Maryam AlObathani; +16 Authors

A Draft Arab Pangenome Reference

Abstract

Abstract Human pangenomes provide a comprehensive portrayal of genetic diversity of humans, yet it lacks representation of Arab populations. We constructed the Arab Pangenome Reference (APR) from 43 individuals with diverse Arab ethnicities. Nuclear and mitochondrial pangenomes were constructed utilizing 35.52X High fidelity long reads and 53.54X ultra-long reads. This yielded high-quality contiguous (average N50=106.81 Mb) de novo assemblies that used over 99% of the sequences constructing haplotype phased diploid genome assemblies with 88% exhibited larger genome length (average 3.01 gigabase) than the prevailing human reference GRCh38. We discovered 100.93 million base pairs of novel euchromatic sequences that were not present in recent human pangenomes and in the human genome references (T2T-CHM13 and GRCh38). We identified 10.68 million population-specific small variants, 108,709 structural variants, and 838 genes (13.24% recessive disease genes) duplication from the Arab pangenome. On exploring the mitochondria pangenome, we uncovered 718 bp of novel sequences. Our study provides a valuable resource for future genetic research and genomic medicine initiatives in the Arab populations and other populations with similar genetic backgrounds.

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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
14
Top 10%
Average
Top 10%
hybrid