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Chromosome

Definition
AI-generated

A chromosome is a single long DNA molecule packaged with proteins; humans have 22 pairs of autosomes and two sex chromosomes per diploid cell.

Topics

Why it matters in GWAS

Association statistics are reported per variant with chromosomal position; sex chromosomes and pseudoautosomal regions need special QC and modeling compared with autosomes.

Example usage

"Karyotype review confirmed chromosome-level abnormalities in samples flagged during QC."

References

  • International Human Genome Sequencing Consortium. (2004). Finishing the euchromatic sequence of the human genome. Nature.

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