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Chunk #42 — Experimental Procedures — Determination of allelic imbalance (AI) and correlation with risk allele status

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Integrative eQTL-based analyses reveal the biology of breast cancer risk loci.
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We excluded all SNP loci with low coverage (less than 15x), homozygosity (only one allele present in the mapped reads) and somatic copy number changes (copy number measure 1.5-2.5). For each individual and for a given transcribed SNP, we calculated a measure of allelic imbalance μ given by (3):