Akhil RAJPUT, PhD

Clinical Genomics Scientist with a PhD and 11+ years of experience in variant curation and clinical genomic analysis across CAP/CLIA-accredited diagnostic laboratories. Expert in ACMG/AMP and ACMG/ClinGen variant classification, including germline SNVs/indels, CNVs, and gene-disease correlation assessment. Authored 34,693 patient reports encompassing 20,701 clinically significant variants at Labcorp (Jan 2023–Dec 2025), achieving 3× year-over-year growth in throughput while maintaining rigorous clinical accuracy.

Skilled in HGVS nomenclature, evidence integration across ClinVar/gnomAD/OMIM/ClinGen, and communicating complex genomic findings in clear medical language.

Clinical Genomics Scientist — Bioinformatics & Reporting - Laboratory Corporation of America (Labcorp)

(2019-10)

• Curate germline SNVs, indels, and CNVs per ACMG/AMP and ACMG/ClinGen guidelines across WES, targeted NGS panels, mtDNA, transcriptome, and CNV-specific assays; render P/LP/VUS/LB/B classifications with supporting evidence documentation.
• Authored 34,693 clinical reports encompassing 20,701 individually classified variants (Jan 2023–Dec 2025); achieved 3× year-over-year growth in throughput while maintaining highest standards of clinical accuracy and evidential rigor.
• Apply HGVS nomenclature standards to all variant descriptions in clinical reports; draft and finalize patient-facing and clinician-facing report language for complex findings.
• Perform gene–disease correlation assessments, evaluate inheritance patterns, adjudicate variants of uncertain significance (VUS), and assess de novo variant status in trio analyses.
• Specialize in constitutional CNV interpretation: apply ACMG/ClinGen 2019 CNV scoring framework for deletion/duplication classification, LOH analysis, and recurrent CNV pattern evaluation using IGV.
• Maintain data quality standards across high-volume curation workflows; actively participate in process refinement and turnaround time monitoring.

Principal Scientist / Data Scientist — Genomics & Discovery - Pathway Genomics Corporation

(2017 - 2019)

• Developed expertise in CNV analysis using Nexus and IGV platforms; interpreted deletions, duplications, and loss of heterozygosity in germline genomic data.
• Contributed to genomics R&D initiatives including test development, bioinformatics pipeline evaluation, and variant effect prediction methodology.
• Built tools and scripts to support variant analysis workflows; collaborated cross-functionally with laboratory directors and software teams.

PhD - Biochemistry & Molecular Biology - Weizmann Institute of Science (2001 - 2007)

Master of Science - Biotechnology - The Maharaja Sayajirao University of Baroda (1998 - 2000)