Max Healthcare
Saket, Delhi
Bioinformatics
Job Description: Junior Bioinformatician – Clinical Genomics / Exome Analysis
Position: Manager - Bioinformatician
Department: Molecular Diagnostics / Genomics
Experience: Minimum 8 years
Qualification: M.Sc./M.Tech in Bioinformatics, Biotechnology, Genetics, Genomics, Computational Biology or related field. Ph.D. preferred.
Role Summary We are looking for a Junior Bioinformatician with experience in clinical genomics, particularly whole exome sequencing analysis and clinical report generation. The candidate will be responsible for processing NGS data, performing variant annotation and prioritization, supporting clinical interpretation, and preparing structured molecular diagnostic reports under supervision.
Key Responsibilities
Whole Exome Sequencing Analysis
Process raw FASTQ files through standard WES pipelines.
Perform quality control, trimming, alignment, BAM processing, variant calling and annotation.
Work with tools such as FastQC, MultiQC, BWA, SAMtools, GATK, bcftools, VEP/ANNOVAR/SnpEff, ClinVar, gnomAD and related databases.
Analyze SNVs, indels and, where applicable, CNVs from exome data.
Variant Interpretation and Prioritization
Prioritize clinically relevant variants based on phenotype, inheritance pattern, population frequency, predicted impact and published evidence.
Use databases such as OMIM, ClinVar, HGMD, gnomAD, Varsome, Franklin, LOVD and PubMed.
Support ACMG/AMP-based variant classification.
Prepare candidate variant shortlists for review by senior scientists/clinical geneticists.
Clinical Report Preparation
Prepare draft clinical reports for WES, targeted panels and other NGS-based assays.
Ensure reports include gene, transcript, variant nomenclature, zygosity, depth, VAF, classification, disease association and clinical relevance.
Maintain consistency, accuracy and traceability in reporting.
Assist in preparing negative, VUS, carrier and positive reports.
Data Management and Documentation
Maintain sample-wise analysis folders, logs, QC metrics and final result files.
Follow laboratory SOPs and documentation requirements.
Support validation, troubleshooting and continuous improvement of pipelines.
Ensure confidentiality and secure handling of patient genomic data. Team Support Coordinate with wet lab, molecular scientists and clinicians for sample status, QC issues and report finalization. Participate in case discussions and variant review meetings. Assist in literature review and evidence compilation for rare variants.
Essential Skills
Minimum 2 years of hands-on experience in NGS/WES data analysis.
Good understanding of human genetics, Mendelian disorders and clinical genomics.
Experience with Linux/Ubuntu command line.
Familiarity with FASTQ, BAM, VCF, BED and annotation file formats.
Ability to interpret sequencing
QC metrics.
Knowledge of ACMG variant interpretation guidelines.
Experience in clinical report drafting. Good scientific writing and documentation skills.
Desirable Skills
Ph.D. in Bioinformatics, Genomics, Human Genetics or related field.
Experience with CNV analysis from WES data.
Experience with oncology, pharmacogenomics or inherited disease reporting.
Knowledge of NABL/CAP/ISO documentation practices.
Experience with pipeline automation using bash, Python or R.
Familiarity with IGV for variant visualization.
Experience with LIMS or clinical reporting systems.
Expected Competencies
Attention to detail and accuracy.
Ability to work with clinical urgency and confidentiality.
Good communication skills.
Ability to work in a multidisciplinary team.
Willingness to learn and adapt to evolving clinical genomics workflows.
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