Service Description:
Omics Drive provides PacBio SMRT sequencing for human whole genome sequencing to reveal structural variants and produce direct variant phasing information across haplotype blocks and methylation.
Through SMRT sequencing, de novo genome assemblies deliver megabase-size contig N50s, consensus accuracies above 99.99%, and phased haplotypes so scientists can generate reference-quality assemblies of diverse populations to better understand the complexity of human health and disease.
Key Featuresand Advantages:
Generate references unique to apopulation, individual or disease.
Generate fully phased haplotypes to identify common alleles in the population
Access novel types of genetic variation and difficult-to-characterize regions
Use novel reference sequences to improve variant detection in population specific loci
Bioinformatics Analysis:
Data quality control
Reference genome alignment
Genome preliminarily assembles
Genome annotation
SNP/Indel identification and annotation
CNV/SV identification and annotation
...
(More analysis upon request)
Analysis Flow:
