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
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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 DNA methylome of African cassava genome
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DOI: 10.1111/pbi.13955
Abstract: Cytosine DNA methylation is involved in biological processes such as transposable element (TE) silencing, imprinting, and X chromosome inactivation. Plant methylation is mediated by MET1 (mammalian DNMT1), DRM2 (mammalian DNMT3), and two plant-specific DNA methyltransferases,… read more here.
Keywords: dna methylome; cassava genome; dna; haplotype resolved ... See more keywords
Chromosome-Scale, Haplotype-Resolved Genome Assembly of Suaeda Glauca
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DOI: 10.3389/fgene.2022.884081
Abstract: Agricultural College, Inner Mongolia Agricultural University, Hohhot, China, College of Grassland, Resources and Environment, Inner Mongolia Agricultural University, Hohhot, China, School of Pharmaceutical Sciences, Baotou Medical College, Baotou, China, Inner Mongolia Academy of Agricultural &… read more here.
Keywords: resolved genome; hohhot china; inner mongolia; scale haplotype ... See more keywords
Haplotype-Resolved Genome Analyses Reveal Genetically Distinct Nuclei within a Commercial Cultivar of Lentinula edodes
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Fungi"
DOI: 10.3390/jof8020167
Abstract: Lentinula edodes is a tetrapolar basidiomycete with two haploid nuclei in each cell during most of their life cycle. Understanding the two haploid nuclei genome structures and their interactions on growth and fruiting body development… read more here.
Keywords: two haploid; haploid nuclei; lentinula edodes; nuclei ... See more keywords