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The goal of this array is to enable an intermediate experiment between current genotyping arrays, which focus on relatively common variants, and exome sequencing of very large numbers of samples, which will enable examination of coding variants, down to singletons. The array aims to include coding variants seen several times in existing sequence datasets. Towards this end, we have assembled information on ~12,000 sequenced genomes and exomes and catalogued, for each variant that potentially affects protein structure, the total number of times it was seen and the total number of datasets that included the variant. Our working definition of a variant that has been seen "several times" focuses on non-synonymous variants seen at least 3+ times across at 2+ datasets. A more lenient criterium was used for splice and non-sense variants.
The goal of this array is to enable an intermediate experiment between current genotyping arrays, which focus on relatively common variants, and exome sequencing of very large numbers of samples, which will enable examination of coding variants, down to singletons. The array aims to include coding variants seen several times in existing sequence datasets. Towards this end, we have assembled information on ~12,000 sequenced genomes and exomes and catalogued, for each variant that potentially affects protein structure, the total number of times it was seen and the total number of datasets that included the variant. Our working definition of a variant that has been seen "several times" focuses on non-synonymous variants seen at least 3+ times across at 2+ datasets. A more lenient criterium was used for splice and non-sense variants.
= Variants that Alter Protein Function =
In the genome of an average individual (as represented by the exome sequenced individuals contributed for chip design), we expect to see XXX nonsynonymous variants, XXX splice variants and XXX stop altering variants.
In the genome of an average individual (as represented by the exome sequenced individuals contributed for chip design), we expect to see XXX nonsynonymous variants, XXX splice variants and XXX stop altering variants.
== Non-synonymous Variants ==
== Non-synonymous Variants ==
