End-to-End Genomic Analysis
WES, WGS (short & long‑read), QC, alignment, variant calling, and expert interpretation for diagnostics and R&D.
Benefit: One trusted partner for a coherent, accurate result.
PrecisionGEN provides end-to-end, physician-scientist–led genomics consulting that turns complex data into clear, clinical decisions. We take your data from raw sequence through interpretation and validation — delivering clear, actionable insights where standard pipelines stop.
Genomics has unlocked vast amounts of data — but too often, that data fails to deliver answers. Patients with rare diseases and complex cancers endure a painful "diagnostic odyssey" of inconclusive tests and ambiguous results. Standard pipelines generate reports, but not resolution.
At PrecisionGEN, our philosophy is simple: The search doesn't end until the biology is clear. We integrate clinical reasoning, multi-omics expertise, and functional validation strategies to transform raw data into biological truth. Our mission is to deliver the definitive answer that powers your next discovery, secures your next grant, or solves your most challenging clinical case.
End‑to‑end analysis, multi‑omics integration, and decisive interpretation.
WES, WGS (short & long‑read), QC, alignment, variant calling, and expert interpretation for diagnostics and R&D.
Benefit: One trusted partner for a coherent, accurate result.
RNA‑seq, splicing & fusions, methylation, epigenomics—integrated with DNA for mechanism and biomarkers.
Benefit: Reveal drivers DNA‑only pipelines miss.
VUS reclassification, splicing/non‑coding interpretation, and functional strategies (exon‑trap, reporters, CRISPR).
Benefit: Convert ambiguity into clinical‑grade proof.
Target validation, biomarker discovery, pipeline audits, and integrative analysis for publications and grants.
Benefit: Increase yield, de‑risk programs, move faster.
We start with a confidential, no-obligation call to understand your challenge, data, and goals. You then receive a clear, fixed-fee proposal and Statement of Work.
Once approved, our physician-scientist team manages the entire analytical journey. We provide regular updates and collaborate with your team to ensure perfect alignment.
We deliver a comprehensive report that provides a clear biological narrative and actionable insights. Every project concludes with a live debrief to discuss findings and next steps.
De-risk your drug development with deep biological validation for targets, biomarkers, and companion diagnostic strategies.
Increase diagnostic yield without expanding headcount — on-demand expert review and pipeline audits.
Translate complex multi-omics datasets into publications and funded proposals through integrative analysis and storytelling.
Physician-scientist bridging clinical medicine and computational genomics
Selected publications demonstrating our core expertise.
Science | ⭐ Lead Author
Reveals that ultra-rare, damaging mutations in synaptic genes contribute significantly to schizophrenia risk, demonstrating the power of studying diverse populations to uncover novel disease biology.
Cell | ⭐ Co-first Author
A landmark study that integrated genomics and transcriptomics to prove that genes carrying *de novo* mutations in schizophrenia form a functional network critical for fetal brain development.
Genome Research | ⭐ Lead Author
Demonstrates the core value of PrecisionGEN: using a robust platform of long-read DNA and RNA sequencing to find cryptic, pathogenic deep intronic variants in major cancer genes that conventional methods miss.
PNAS | ⭐ Co-first Author
Established a systematic framework for using RNA analysis to characterize and functionally validate splice-altering mutations in cancer genes, turning ambiguous DNA findings into definitive answers.
Journal of Human Genetics
A recent collaborative study characterizing complex GAA repeat expansions in ataxia and identifying potential genetic modifiers using advanced long-read sequencing in a diverse Indian cohort.
Genome Research | ⭐ Lead Author
A foundational paper in gene discovery that pioneered the early use of exome sequencing to identify a novel gene (WDR81) for a severe neurodevelopmental disorder, providing a definitive diagnosis for a family.
View complete publication list on:
Complete academic and professional curriculum vitae.
Ready to transform your genomic data into decisions?
We start with a confidential, no-obligation Zoom call to understand your challenge and provide a clear proposal.