Mutation profiling of the c.1521_1523delCTT (p.Phe508del, F508del) CFTR allele using haplotype-resolved long-read next generation sequencing.
Sign Up to like & getrecommendations! Published in 2022 at "Human mutation"
DOI: 10.1002/humu.24352
Abstract: Current approaches to characterize the mutational profile of the cystic fibrosis transmembrane conductance regulator (CFTR) gene are based on targeted mutation analysis (TMA) or whole gene studies derived from short-read next generation sequencing (NGS). However,… read more here.
Keywords: cftr; haplotype resolved; f508del; mutation ... See more keywords
Chromosome-scale, haplotype-resolved assembly of human genomes
Sign Up to like & getrecommendations! Published in 2020 at "Nature Biotechnology"
DOI: 10.1038/s41587-020-0711-0
Abstract: Haplotype-resolved or phased genome assembly provides a complete picture of genomes and their complex genetic variations. However, current algorithms for phased assembly either do not generate chromosome-scale phasing or require pedigree information, which limits their… read more here.
Keywords: chromosome scale; human genomes; haplotype resolved;
Haplotype-resolved, gap-free genome assemblies provide insights into the divergence between Asian and European pears
Sign Up to like & getrecommendations! Published in 2025 at "Nature Genetics"
DOI: 10.1038/s41588-025-02273-4
Abstract: Pears (Pyrus spp.) are self-incompatible crops with broad genetic diversity. High heterozygosity and technical limitations result in gaps within reference genomes. Our study presents the telomere-to-telomere, haplotype-resolved genomes of a representative Asian pear ‘Dangshansuli’ (Pyrus… read more here.
Keywords: asian european; gap free; resolved gap; haplotype resolved ... See more keywords
A haplotype-resolved genome provides insight into allele-specific expression in wild walnut (Juglans regia L.)
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DOI: 10.1038/s41597-024-03096-4
Abstract: Wild germplasm resources are crucial for gene mining and molecular breeding because of their special trait performance. Haplotype-resolved genome is an ideal solution for fully understanding the biology of subgenomes in highly heterozygous species. Here,… read more here.
Keywords: wild walnut; resolved genome; haplotype; allele specific ... See more keywords
A haplotype-resolved genome assembly of Malus domestica ‘Red Fuji’
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DOI: 10.1038/s41597-024-03401-1
Abstract: The ‘Red Fuji’ apple (Malus domestica), is one of the most important and popular economic crops worldwide in the fruit industry. Using PacBio HiFi long reads and Hi-C reads, we assembled a high-quality haplotype-resolved genome… read more here.
Keywords: resolved genome; red fuji; fuji; malus domestica ... See more keywords
An annotated haplotype-resolved genome sequence assembly of diploid German chamomile, Matricaria chamomilla
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DOI: 10.1038/s41597-025-04688-4
Abstract: Matricaria chamomilla L. (chamomile) is a medicinal plant that is widely used for treating skin infections and respiratory ailments. Chamomile belongs to the Asteraceae family of flowering plants and is a primarily outcrossing species with… read more here.
Keywords: resolved genome; matricaria chamomilla; haplotype; chamomile ... See more keywords
Two haplotype-resolved telomere-to-telomere genome assemblies of Xanthoceras sorbifolium
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DOI: 10.1038/s41597-025-05057-x
Abstract: Yellowhorn (Xanthoceras sorbifolium) is widely used in northern China for landscaping, desertification control, and oil production. However, the lack of high-quality genomes has hindered breeding and evolutionary studies. Here, we present the first haplotype-resolved, telomere-to-telomere… read more here.
Keywords: resolved telomere; telomere telomere; xanthoceras sorbifolium; haplotype resolved ... See more keywords
A haplotype-resolved genome assembly and gene expression map of Cushion willow
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DOI: 10.1038/s41597-025-05132-3
Abstract: Salix brachista, commonly known as Cushion willow, is a common component of subnival alpine assemblages and a dioecious or monoecious plant with a creeping stem and numerous lateral branches. Cushion willow takes cuttings more easier… read more here.
Keywords: gene expression; cushion; cushion willow; haplotype resolved ... See more keywords
Chromosome-level haplotype-resolved genome assembly of the giant honeycomb oyster, Hyotissa hyotis
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DOI: 10.1038/s41597-025-05675-5
Abstract: The giant honeycomb oyster, Hyotissa hyotis, a common bivalve inhabitant of tropical and subtropical coastal waters, holds significant ecological and economic importance due to its shell characteristics, rapid growth, and high-quality adductor muscle. However, the… read more here.
Keywords: oyster hyotissa; haplotype; honeycomb oyster; giant honeycomb ... See more keywords
A haplotype-resolved genome assembly of Anoectochilus roxburghii
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DOI: 10.1038/s41597-025-06181-4
Abstract: Anoectochilus roxburghii, a highly valued medicinal plant in traditional Chinese medicine, exhibits unique pharmacological properties and broad application value. In this study, we de novo assembled and annotated haplotype-resolved chromosome-level genomes of A. roxburghii cultivar… read more here.
Keywords: anoectochilus roxburghii; resolved genome; assembly; haplotype resolved ... See more keywords
Haplotype-resolved t2t genome of paliurus hemsleyanus provides insights into rhamnaceae evolution and genome biology
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DOI: 10.1038/s42003-025-09283-2
Abstract: Paliurus hemsleyanus Rehd., a deciduous shrub or small tree endemic to China, is valued for its hardiness, economic and ornamental importance, and widespread used as a rootstock for Chinese jujube (Ziziphus jujuba Mill.). Despite its… read more here.
Keywords: paliurus hemsleyanus; evolution; biology; hemsleyanus ... See more keywords