Long Reads Sequencing

Key advantages

• Captures large structural variants, repeat expansions, and complex rearrangements

• Improves genome assembly with high-contiguity and fewer gaps

• Enables phasing of alleles and haplotype resolution

• Accurately sequences GC-rich, repetitive, or hard-to-map regions

• Supports full-length transcript isoform detection (when combined with cDNA or direct RNA sequencing)

• Ideal for rare disease, cancer genomics, microbiology, and plant/animal genome projects

• Reduces reference bias in alignment and variant calling

• Compatible with hybrid approaches integrating short-read and long-read data

Technical specifications

• Platforms supported: PacBio Sequel IIe (HiFi), PacBio Revio, Oxford Nanopore PromethION/GridION

• Read lengths: average 10–25 kb (HiFi); up to 100 kb+ with Nanopore

• Input requirements: high-molecular-weight DNA (≥5–10 μg for optimal performance)

• Coverage recommendations: ≥15× HiFi for human genomes; customizable for other species

• Data outputs: FASTQ, BAM, and variant call files (VCF), with optional assembly and annotation

• Variant detection: large SVs, indels, CNVs, tandem repeats, methylation (Nanopore)

• Bioinformatics pipeline: de novo assembly, polishing, SV detection, phasing, methylation calling

• Optional services: hybrid assembly with Illumina/short reads, gene annotation, epigenetic profiling

• Data delivery: assembled genomes, annotation files, and interactive genome browsers