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."
Related terms¶
References¶
- International Human Genome Sequencing Consortium. (2004). Finishing the euchromatic sequence of the human genome. Nature.
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