Using data generated by the TruSeq Synthetic Long-Read DNA Library Prep Kit (also released this week), the TruSeq Long-Read Assembly App executes the assembly of synthetic long reads, and the TruSeq Phasing Analysis App performs whole human genome phasing.
The TruSeq Long-Read Assembly App constructs synthetic long reads from shorter sequencing reads, providing FASTQ files for accurate genome assembly, genome finishing, de novo assembly and metagenomics analysis.
The TruSeq Phasing Analysis App performs whole human genome phasing, identifying haplotype information, co-inherited alleles and phasing de novo mutations. The application reports haplotype blocks across the genome and phasing confidence scores in a phased VCF file.
Together with the TruSeq Long-Read DNA Library Prep Kit and Illumina’s sequencing technology, these new apps provide a solution for long reads that spans library prep, sequencing, and informatics. See some sample data on the Illumina Blog, and learn more about synthetic long-read and phasing technology on the Illumina website.