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Service introduction

        With the significant reduction in the cost of high-throughput sequencing and the significant improvement in sequencing efficiency, whole-genome resequencing has become a common method for finding variants. Resequencing is the full-genome sequencing of different individuals or different tissues of a species with a known genome. By comparing with the reference genome, the sequence information of the individual genome can be obtained, and the various variant information with the reference genome, such as SNP, InDel, SV, and CNV, can be obtained. This is of great significance for obtaining the pathogenic genes of genetic variation, understanding population genetics, the evolutionary process of species, and natural selection.

Technical procedures

        The genomic DNA is randomly fragmented by physical methods, and then recovered according to the fragment size required for library construction. The small-fragment sequencing library is constructed using the standard Illumina library construction process, and sequencing is performed in the 150PE mode. The overall sequencing depth is 30×, but the sequencing depth can be adjusted according to different experimental sequencing requirements.

Bioinformatics analysis

Sample requirements