Project description:Constructing high-quality haplotype-resolved genome assemblies has substantially improved the ability to detect and characterize genetic variants. A targeted approach providing readily access to the rich information from haplotype-resolved genome assemblies will be appealing to groups of basic researchers and medical scientists focused on specific genomic regions. Here, using the 4.5 megabase, notoriously difficult-to-assemble major histocompatibility complex (MHC) region as an example, we demonstrated an approach to construct haplotype-resolved assembly of the targeted genomic region with the CRISPR-based enrichment. Compared to the results from haplotype-resolved genome assembly, our targeted approach achieved comparable completeness and accuracy with reduced computing complexity, sequencing cost, as well as the amount of starting materials. Moreover, using the targeted assembled personal MHC haplotypes as the reference both improves the quantification accuracy for sequencing data and enables allele-specific functional genomics analyses of the MHC region. Given its highly efficient use of resources, our approach can greatly facilitate population genetic studies of targeted regions, and may pave a new way to elucidate the molecular mechanisms in disease etiology.
Project description:Constructing high-quality haplotype-resolved genome assemblies has substantially improved the ability to detect and characterize genetic variants. A targeted approach providing readily access to the rich information from haplotype-resolved genome assemblies will be appealing to groups of basic researchers and medical scientists focused on specific genomic regions. Here, using the 4.5 megabase, notoriously difficult-to-assemble major histocompatibility complex (MHC) region as an example, we demonstrated an approach to construct haplotype-resolved assembly of the targeted genomic region with the CRISPR-based enrichment. Compared to the results from haplotype-resolved genome assembly, our targeted approach achieved comparable completeness and accuracy with reduced computing complexity, sequencing cost, as well as the amount of starting materials. Moreover, using the targeted assembled personal MHC haplotypes as the reference both improves the quantification accuracy for sequencing data and enables allele-specific functional genomics analyses of the MHC region. Given its highly efficient use of resources, our approach can greatly facilitate population genetic studies of targeted regions, and may pave a new way to elucidate the molecular mechanisms in disease etiology.
Project description:Background: We studied the chromatin accessibility landscsape in wings during butterfly metamorphosis, and investigate which transcription factors might be driving changes in accessibility Methods: We sequencing the Junonia coenia genome, and we studied chromatin accessibility using ATAC seq in multiple stages of wing development in both forewings and hindwings. For sites showing a large change in accessibility, we investigate which motifs are enriched, and correlate this with changes in gene expression of associated transcription factors. We confirm promising candidates with ChIP-seq Results: We find a highly dynamic landscape, with multiple peaks showing a double increase in accessibility throughout development. We show that transcription factor spineless, but not ecdysone receptor, is highly predictive of opening sites Conclusions: This work provides a characterization of the chromatin dynamics of insect wing metamorphosis, identifies novel candidate chromatin remodeling factors in insects, and provides the first genome assembly of the model butterfly Junonia coenia, with gene and cis-regulatory element annotations
Project description:Background: We studied the chromatin accessibility landscsape in wings during butterfly metamorphosis, and investigate which transcription factors might be driving changes in accessibility Methods: We sequencing the Junonia coenia genome, and we studied chromatin accessibility using ATAC seq in multiple stages of wing development in both forewings and hindwings. For sites showing a large change in accessibility, we investigate which motifs are enriched, and correlate this with changes in gene expression of associated transcription factors. We confirm promising candidates with ChIP-seq Results: We find a highly dynamic landscape, with multiple peaks showing a double increase in accessibility throughout development. We show that transcription factor spineless, but not ecdysone receptor, is highly predictive of opening sites Conclusions: This work provides a characterization of the chromatin dynamics of insect wing metamorphosis, identifies novel candidate chromatin remodeling factors in insects, and provides the first genome assembly of the model butterfly Junonia coenia, with gene and cis-regulatory element annotations