인간 게놈 연구에서 HiFi Reads 가 제공하는 Comprehensive Variant Detection
99%이상의 정밀도를 가지는 single-molecule long reads (HiFi reads)는 모든 형태의 변이 분석에서 큰 잇점을 가지고 있습니다. 국내 유일의 Sequel 2 System 을 이용하여 high precision and recall의 single nucleotide variants (SNVs), indels, structural variants (SVs) 그리고 copy number variants (CNVs) 분석이 가능 합니다. 물론 기존의 시퀀서로는 분석이 어려운 difficult-to-map repetitive regions 문제도 해결 가능 합니다. HiFi reads로 30배수 시퀀싱된 Diploiid human genome(HG002) 데이터(SRA accession: SRX5527202)를 DeepVariant를 이용하여 변이 분석을 진행 하고, SMRTLink를 이용하여 Structural Variant 분석을 진행 한 후 the Genome in a Bottle (GIAB) benchmark 결과와 비교하였습니다. SNV, Indel, SV 결과에서 전체적으로 15배수 데이터 이상 부터 90%이상의 precision 및 recall 결과를 보여주고 있습니다.
DETECT PREVIOUSLY INVISIBLE VARIANTS IN MEDICALLY RELEVANT GENES
Coverage of the Cytochrome P450 2D6 (CYP2D6) and CYP2D7 genes with HiFi reads12 and NGS reads visualized in IGV10. CYP2D6 is responsible for the metabolism and elimination of approximately 25% of clinically used drugs13.
Advanced scientific discoveries require sequencing data that is both accurate and complete. SMRT Sequencing allows you to optimize your results with two sequencing modes so you no longer have to compromise read length for accuracy.
PacBio is the only sequencing technology to offer highly accurate long reads (HiFi reads) that provide Sanger-quality accuracy (>99%) with the read lengths needed for assembly of complex genomes.
What are HiFi Reads?
Generate Highly Accurate Long Reads
Produce HiFi reads using the circular consensus sequencing (CCS) mode to provide base-level resolution with >99% single-molecule read accuracy for the detection of all variant types from single nucleotide to structural variants. Learn more about the advantages of long reads with high accuracy.
