Description
The National Institutes of Health seeks a contractor to perform whole‑genome sequencing (WGS) on 600 archived DNA samples from the HANDLS cohort. The work includes library preparation, sequencing on an Illumina NovaSeq X‑Plus platform (≥30× coverage, 2×150 bp reads), primary and secondary data analysis (alignment, variant calling with DRAGEN, QC, multi‑sample VCF generation), and delivery of raw and processed data in secure electronic formats. Additional responsibilities include confirming DNA quantity/quality, re‑sequencing failed samples, providing written method summaries, attending government lab meetings, offering technical consultations, and shipping residual samples to a Baltimore research center.
• 600 samples to be processed on NovaSeq X‑Plus (25B‑300 flow cells).
• Minimum 30× coverage, paired‑end 150 bp reads.
• QC steps: DNA quantification, agarose‑gel screening, sex check, duplicate/relatedness detection, contamination assessment.
• Data deliverables: per‑sample CRAM, gVCF, VCF, structural‑variant/CNV calls, joint‑called multi‑sample VCF, QC reports, data dictionary, sample manifest.
• Post‑delivery support: attendance at meetings, technical consultations, overnight shipment of leftover samples.