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FASTQ

Definition
AI-generated

FASTQ is a text format for sequencing reads that stores the read identifier, nucleotide sequence, a separator line, and per-base quality scores.

Why it matters in GWAS

When GWAS starts from sequencing data, FASTQ is the earliest data layer and directly affects downstream alignment, variant calling quality, and final association reliability.

Example usage

"We performed adapter trimming and quality filtering on FASTQ files before alignment."

References

  • Cock PJA, et al. (2010). The Sanger FASTQ file format for sequences with quality scores, and the Solexa/Illumina FASTQ variants. Nucleic Acids Research. https://doi.org/10.1093/nar/gkp1137

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