Breakthrough Genomic Test Launched to Solve Unsolved Cancer Cases

Breakthrough Genomic Test Launched to Solve Unsolved Cancer Cases

Hyderabad, October 2025: Nucleome Informatics, a genomics company based in Hyderabad, India, has introduced the “DrSeq 4 Power Biomarkers WGS-HiFi Test”—a groundbreaking cancer genomics solution integrating long-read whole genome sequencing to transform cancer diagnostics and personalized care.

Nucleome’s WGS-HiFi Cancer Test Sets New Benchmark in Precision Oncology

Nucleome Informatics’ latest clinical innovation, the 4 Power Biomarkers WGS-HiFi Test, leverages state-of-the-art High-Fidelity (HiFi) long-read sequencing to deliver unprecedented accuracy and comprehensiveness in profiling cancer genomes. This test uniquely combines four critical biomarker categories: single nucleotide variants (SNVs), insertions/deletions (indels), structural variations (SVs), and epigenetic modifications, ushering in a new era of precision oncology for patients with complex or previously unresolved cancer cases.

Revolutionizing Cancer Genome Analysis

Traditional short-read sequencing platforms often miss mutations in challenging genomic regions, resulting in diagnostic gaps for oncologists. Nucleome’s WGS-HiFi Test overcomes these barriers by producing long, highly accurate reads (greater than 99.9% accuracy) capable of pinpointing even cryptic cancer drivers and resistance mutations within repetitive, GC-rich, or structurally complex segments of the genome. This enables clinicians to uncover novel and actionable genetic changes that directly inform therapeutic decisions.

Four Biomarkers, One Powerful Platform

• Single Nucleotide Variants (SNVs): Pinpointing disease-driving mutations missed by conventional methods.
• Insertions/Deletions (Indels): Detecting frameshifts and exon disruptions in key cancer genes.
• Structural Variations (SVs): Identifying fusion genes, chromosomal rearrangements, and copy number changes with single-base precision.
• Epigenetic Modifications: Capturing DNA methylation profiles tied to gene regulation, prognosis, and therapy selection. 

Clinical Impact in Real-world Cases

Recent case studies highlighted by Nucleome show the test’s impact: clinicians have discovered previously undetectable pathogenic duplications in breast cancer genes, reclassified ambiguous structural variants, and resolved rare fusions using the similar technology of HiFi long read sequencing—enabling more accurate diagnoses, expanded clinical trial eligibility, and targeted treatment options. The HiFi long-read sequencing identified up to 93% of pathogenic variants missed by traditional platforms, improving outcomes for patients with unsolved genetic profiles.

Enabling True Precision Oncology

By delivering comprehensive and actionable results—integrating the genome’s structure and epigenetic context—the 4 Power Biomarkers WGS-HiFi Test empowers oncologists to make informed choices for personalized treatment, reduces ambiguity in tumor board discussions, and opens new avenues for clinical trial participation. This test stands as a model for future cancer diagnostics, aiming to improve survival and quality of life for patients worldwide.

About Nucleome Informatics

Nucleome Informatics is a pioneering genomics and bioinformatics company based in Hyderabad, India. With over a decade of experience, Nucleome specializes in advanced next-generation sequencing technologies and integrated data analysis across human health, agriculture, and biodiversity. As South Asia’s first provider of cutting-edge PacBio long-read sequencing services, Nucleome empowers researchers and clinicians worldwide with high-accuracy genomic insights that drive breakthroughs in precision medicine and genomic discovery. 

Contact: info @ nucleomeinfo.com, info @ DrSeq.com