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A chromosome-scale assembly of the major African malaria vector Anopheles funestus

BACKGROUND: Anopheles funestus is one of the 3 most consequential and widespread vectors of human malaria in tropical Africa. However, the lack of a high-quality reference genome has hindered the association of phenotypic traits with their genetic basis in this important mosquito. FINDINGS: Here we...

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Autores principales: Ghurye, Jay, Koren, Sergey, Small, Scott T, Redmond, Seth, Howell, Paul, Phillippy, Adam M, Besansky, Nora J
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6545970/
https://www.ncbi.nlm.nih.gov/pubmed/31157884
http://dx.doi.org/10.1093/gigascience/giz063
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author Ghurye, Jay
Koren, Sergey
Small, Scott T
Redmond, Seth
Howell, Paul
Phillippy, Adam M
Besansky, Nora J
author_facet Ghurye, Jay
Koren, Sergey
Small, Scott T
Redmond, Seth
Howell, Paul
Phillippy, Adam M
Besansky, Nora J
author_sort Ghurye, Jay
collection PubMed
description BACKGROUND: Anopheles funestus is one of the 3 most consequential and widespread vectors of human malaria in tropical Africa. However, the lack of a high-quality reference genome has hindered the association of phenotypic traits with their genetic basis in this important mosquito. FINDINGS: Here we present a new high-quality A. funestus reference genome (AfunF3) assembled using 240× coverage of long-read single-molecule sequencing for contigging, combined with 100× coverage of short-read Hi-C data for chromosome scaffolding. The assembled contigs total 446 Mbp of sequence and contain substantial duplication due to alternative alleles present in the sequenced pool of mosquitos from the FUMOZ colony. Using alignment and depth-of-coverage information, these contigs were deduplicated to a 211 Mbp primary assembly, which is closer to the expected haploid genome size of 250 Mbp. This primary assembly consists of 1,053 contigs organized into 3 chromosome-scale scaffolds with an N50 contig size of 632 kbp and an N50 scaffold size of 93.811 Mbp, representing a 100-fold improvement in continuity versus the current reference assembly, AfunF1. CONCLUSION: This highly contiguous and complete A. funestus reference genome assembly will serve as an improved basis for future studies of genomic variation and organization in this important disease vector.
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spelling pubmed-65459702019-06-13 A chromosome-scale assembly of the major African malaria vector Anopheles funestus Ghurye, Jay Koren, Sergey Small, Scott T Redmond, Seth Howell, Paul Phillippy, Adam M Besansky, Nora J Gigascience Data Note BACKGROUND: Anopheles funestus is one of the 3 most consequential and widespread vectors of human malaria in tropical Africa. However, the lack of a high-quality reference genome has hindered the association of phenotypic traits with their genetic basis in this important mosquito. FINDINGS: Here we present a new high-quality A. funestus reference genome (AfunF3) assembled using 240× coverage of long-read single-molecule sequencing for contigging, combined with 100× coverage of short-read Hi-C data for chromosome scaffolding. The assembled contigs total 446 Mbp of sequence and contain substantial duplication due to alternative alleles present in the sequenced pool of mosquitos from the FUMOZ colony. Using alignment and depth-of-coverage information, these contigs were deduplicated to a 211 Mbp primary assembly, which is closer to the expected haploid genome size of 250 Mbp. This primary assembly consists of 1,053 contigs organized into 3 chromosome-scale scaffolds with an N50 contig size of 632 kbp and an N50 scaffold size of 93.811 Mbp, representing a 100-fold improvement in continuity versus the current reference assembly, AfunF1. CONCLUSION: This highly contiguous and complete A. funestus reference genome assembly will serve as an improved basis for future studies of genomic variation and organization in this important disease vector. Oxford University Press 2019-06-03 /pmc/articles/PMC6545970/ /pubmed/31157884 http://dx.doi.org/10.1093/gigascience/giz063 Text en © The Author(s) 2019. Published by Oxford University Press. http://creativecommons.org/licenses/by/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Data Note
Ghurye, Jay
Koren, Sergey
Small, Scott T
Redmond, Seth
Howell, Paul
Phillippy, Adam M
Besansky, Nora J
A chromosome-scale assembly of the major African malaria vector Anopheles funestus
title A chromosome-scale assembly of the major African malaria vector Anopheles funestus
title_full A chromosome-scale assembly of the major African malaria vector Anopheles funestus
title_fullStr A chromosome-scale assembly of the major African malaria vector Anopheles funestus
title_full_unstemmed A chromosome-scale assembly of the major African malaria vector Anopheles funestus
title_short A chromosome-scale assembly of the major African malaria vector Anopheles funestus
title_sort chromosome-scale assembly of the major african malaria vector anopheles funestus
topic Data Note
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6545970/
https://www.ncbi.nlm.nih.gov/pubmed/31157884
http://dx.doi.org/10.1093/gigascience/giz063
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