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Estimating microhaplotype allele frequencies from low-coverage or pooled sequencing data
BackgroundMicrohaplotypes have the potential to be more cost-effective than SNPs for applications that require genetic panels of highly variable...
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Improved computations for relationship inference using low-coverage sequencing data
Pedigree inference, for example determining whether two persons are second cousins or unrelated, can be done by comparing their genotypes at a...
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Tagging large CNV blocks in wheat boosts digitalization of germplasm resources by ultra-low-coverage sequencing
BackgroundThe massive structural variations and frequent introgression highly contribute to the genetic diversity of wheat, while the huge and...
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Cost-effectively dissecting the genetic architecture of complex wool traits in rabbits by low-coverage sequencing
BackgroundRabbit wool traits are important in fiber production and for model organism research on hair growth, but their genetic architecture remains...
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Variance of allele balance calculated from low coverage sequencing data infers departure from a diploid state
BackgroundPolyploidy and heterokaryosis are common and consequential genetic phenomena that increase the number of haplotypes in an organism and...
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CNVind: an open source cloud-based pipeline for rare CNVs detection in whole exome sequencing data based on the depth of coverage
BackgroundA typical Copy Number Variations (CNVs) detection process based on the depth of coverage in the Whole Exome Sequencing (WES) data consists...
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Detecting selection in low-coverage high-throughput sequencing data using principal component analysis
BackgroundIdentification of selection signatures between populations is often an important part of a population genetic study. Leveraging...
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Optimization of enzymatic fragmentation is crucial to maximize genome coverage: a comparison of library preparation methods for Illumina sequencing
BackgroundNovel commercial kits for whole genome library preparation for next-generation sequencing on Illumina platforms promise shorter workflows,...
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Next Generation Sequencing in Healthcare
With the fast development and broad application of next-generation sequencing (NGS) technology, data on genomic sequences is now reaching the aims of... -
Comparison of capture-based mtDNA sequencing performance between MGI and illumina sequencing platforms in various sample types
BackgroundMitochondrial genome abnormalities can lead to mitochondrial dysfunction, which in turn affects cellular biology and is closely associated...
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Imputation strategies for genomic prediction using nanopore sequencing
BackgroundGenomic prediction describes the use of SNP genotypes to predict complex traits and has been widely applied in humans and agricultural...
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Application of Deep Sequencing in Phage Display
This chapter describes the workflow to implement deep sequencing into standard phage display experiments on protein libraries. By harvesting the... -
Identification of 45S rDNA in Passiflora using low coverage sequencing: analysis of GC content and chromosomal localization
BackgroundThe 45S rDNA is considered the most useful chromosomal marker for cytogenetic analysis of Passiflora . Amplification of 45S rDNA sequence...
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TILLING by Sequencing
The Targeting Induced Local Lesions In Genome (TILLING) is emerging as a preferred technique of reverse genetics. The use of next generation... -
Targeted sequencing analysis pipeline for species identification of human pathogenic fungi using long-read nanopore sequencing
Among molecular-based techniques for fungal identification, Sanger sequencing of the primary universal fungal DNA barcode, the internal transcribed...
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Double Digest Restriction-Site Associated DNA Sequencing (ddRADseq) Technology
Double digest restriction-site associated DNA sequencing (ddRADseq) technology combines genome reduced representation by digestion with two... -
Genome sequencing-based coverage analyses facilitate high-resolution detection of deletions linked to phenotypes of gamma-irradiated wheat mutants
BackgroundGamma-irradiated mutants of Triticum aestivum L., hexaploid wheat, provide novel and agriculturally important traits and are used as...
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Next-generation fungal identification using target enrichment and Nanopore sequencing
BackgroundRapid and accurate pathogen identification is required for disease management. Compared to sequencing entire genomes, targeted sequencing...
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Nanopore Sequencing for Mixed Samples
Long read Nanopore sequencing can be utilised to determine the quality and accuracy of genetically engineered changes in animals, which often produce... -
A cautionary tale of low-pass sequencing and imputation with respect to haplotype accuracy
BackgroundLow-pass whole-genome sequencing and imputation offer significant cost savings, enabling substantial increases in sample size and...