Whole Genome Resequencing

    The method of complete DNA sequencing of a species whose reference is already available is whole genome resequencing. It is ideal for gene discovery applications, comparative studies, identifying inherited disorders, characterizing mutations, tracking the disease progression etc.


    1. To characterize the genetic diversity within the organisms species and also between the closely related species

    2. To determine the genetic variation of the genome of a sample in relation to a reference genome sequence

    3. High throughput genotyping, to construct genetic map

    4. Comparative analysis of the sequenced genomes to the reference genome for identification of variations [ such as SNV’S (Single Nucleotide Variants), SNP’s (Single Nucleotide Polymorphisms), InDel’s (Insertions/Deletions), large structural variants etc. ] / mutations, specific to the sequenced individuals .

    5. To cover gaps of the existing genome assembly.

    Sequencing Workflow

    1. DNA Extraction

    2. DNA quality check using Qubit and Gel Electrophoresis

    3. Preparation of the sequencing libraries

    4. Validation of the prepared library

    5. Sequencing (MiSeq/HiSeq/NextSeq/Pacbio)

    6. Bioinformatics Analysis