Xcelom Limited (Global)
Long-read sequencing
HiFi long-read
Whole Genome Sequencing (HiFi LR-WGS)
Unlock answers that were previously out of reach
Over 7,000 rare diseases affect more than 300 million people worldwide, with about 80% having a genetic origin.¹ In recent years, NGS-based WES and WGS have played a crucial role in advancing rare disease research and investigation. However, these methods provide answers in only about 30-40% of cases². A key limitation is that short-read sequencing has limited ability on variant detection. The technical limitations can lead to missed variants, which complicates the diagnostic process and frequently necessitates additional assays. In contrast, LRS effectively overcomes many of these technical challenges. It offers significant advantages over NGS and reduces missed variants by over 93%³.
Pioneers in LRS clinical services
As the leading provider of clinical genetic services, Berry Genomics now provides HiFi LR-WGS for clinical research. We are revolutionizing rare disease investigation with in-depth tools and a comprehensive approach that ensures best-in-class reliability, powered by long-read capabilities and high accuracy This can helps physicians and researchers to detect variants missed by short-read NGS and solve previously unanswerable genetic questions.
A new standard of accuracy with long-read
HiFi LR-WGS establishes a new standard for whole genome accuracy, characterized by a marked reduction in false call rates relative to short-read WGS. Therefore, even at lower sequencing depths (15-20×), HiFi LR-WGS demonstrates greater sensitivity and specificity for detecting SNPs, InDels, and large insertions/deletions than SR-WGS at 35× depth.
Internal comparison data: WGS variant calling accuracy measured as false-positives (red) and false-negatives (blue) with reference HG002 (both 35x, benchmark NISTv0.6)
Extra insight with HiFi LR-WGS capabilities
Haplotype Phasing
HiFi LR-WGS distinguishes haplotypes, a feature of significant value in various clinical scenarios. For example, phasing can determine if 2 mutations are in cis (same chromosome) or trans (opposite chromosomes) when 2 variants are found in an autosomal recessive condition. This feature is particularly important when parental samples are unavailable or when one variant is a de novo mutation. Additionally, it also helps separate functional genes from pseudogenes or other homologus regions to enhance the variant calling performance.
Structural Variant
HiFi LR-WGS can detects far more structural variants than short-read WGS, structural variants such as inversions and translocations.
Repeat Expansion
Its long-read length (>15kb) can span repetitive regions (such as VNTR and STR), allowing for a comprehensive profiling of disease-associated tandem repeats. In addition, HiFi LR-WGS can count repeat number in accurate and identify changes/interruptions within repeat sequences which might associated with the risk.
Methylation Analysis
HiFi LR-WGS directly detects DNA methylation, offering significant value to help for diagnosing imprinting disorders (e.g., Prader-Willi Syndrome) and X-linked diseases by identifying specific methylated regions.
Send-out Testing
When considering our send-out sequencing services:
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Contact our team for the most up-to-date test details.
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Check sample and shipment requirements before sending out to guarantee result quality. Also verify export requirements and your logistics partner.
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Contact Xcelom when placing any order along with a completed Test Request and Consent Form, any required QC data and other required document.
Supported Sample Type
Peripheral blood (2mL, EDTA tube)
Long-fragment gDNA
Transport Condition
4℃, ≤ 72 hours;
Dry ice transportation, < 5 calender days
Deliverable
Raw data
ACMG reporting
Variants Reported Associated with the Provided Phenotype:
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Single-nucleotide variants (SNVs)/ Insertions and deletions (InDels)
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Copy number variations (CNVs)
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Structural variations (SVs)
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Absence of heterozygosity (AOH) / Uniparental disomy (UPD, for Trio only)
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Mitochondrial mutations (SNVs/InDels)
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Tandem repeats/Dynamic variants in 63 clinically relevant genes
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Methylation abnormalities for 8 diseases
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ACMG secondary findings
For research use only
Turnaround Time
34 working days
Technology Transfer
Berry Genomics and Xcelom offer a dedicated service for the implementation of HiFi LR-WGS solutions, offering end-to-end support from lab workflow setup to trainin. We particularly excel in analysis support, helping labs master variant annotation and interpretation. Our tailored software solutions streamline bioinformatics and ACMG analysis by automatically integrating relevant public data.
References:
1. Rare Genetic Diseases. National Institutes of Health. Accessed June, 2025. https://www.genome.gov/dna-day/15-ways/rare-genetic-diseases
2. Wright CF, FitzPatrick DR, Firth HV. Paediatric genomics: diagnosing rare disease in children. Nat Rev Genet. 2018;19(5):253-268.
3. Höps W, Weiss MM, Derks R, et al. HiFi long-read genomes for difficult-to-detect, clinically relevant variants. Am J Hum Genet. 2025;112(2):450-456.