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| = Affymetrix Exome Arrays = | | = Affymetrix Exome Arrays = |
| | | |
− | Information on assay design is not available at this point.
| + | == Coding Variants: Design Criteria == |
| + | Probe sequences were a priori excluded if there was an adjacent polymorphism within 5bp of the target variant or if the cumulative genome-frequency count of each 16-mer in the probe exceeded 300. |
| + | The array was wet-lab validated against HapMap 270 and ~1000 Genomes Sample Collections. |
| + | |
| + | {| cellpadding="2" cellspacing="1" border="0" summary="Summarizes the Number of SNPs in Each Category tat were attempted and those that passed wet lab validation. Note that Categories Overlap." |
| + | |+ '''Affymetrix Assay Design Summary''' |
| + | |- |
| + | ! bgcolor="lightblue" scope="col" | Categories |
| + | ! bgcolor="lightblue" scope="col" align="right"| Candidates |
| + | ! bgcolor="lightblue" scope="col" align="center" | # wet lab validated <br> & working on Axiom |
| + | ! bgcolor="lightblue" scope="col" | Comments |
| + | |- |
| + | ! scope="row" align="left" | Non-synomynous Coding SNPs<br> /splice & stop |
| + | | align="right" |259,976<br> /19,672 |
| + | | align="right" | 247,546<br> /17,066 |
| + | | Includes 16K additional non-synonymous coding variants from <br> the Axiom Genomic Database. . |
| + | |- |
| + | ! bgcolor="lightgray" scope="row" align="left" | GWAS |
| + | | bgcolor="lightgray" scope="row" align="right" | 5,542 |
| + | | bgcolor="lightgray" scope="row" align="right" | 5,053 |
| + | | bgcolor="lightgray" scope="row" | |
| + | |- |
| + | ! scope="row" align="left" | Grid |
| + | | align="right" | 5,719 |
| + | | align="right" | 5,478 |
| + | | |
| + | |- |
| + | ! bgcolor="lightgray" scope="row" align="left" | Synonymous cSNPs |
| + | | bgcolor="lightgray" scope="row" align="right" | 5,000 |
| + | | bgcolor="lightgray" scope="row" align="right" | 4,367 |
| + | | bgcolor="lightgray" scope="row" align="right" | |
| + | |- |
| + | ! scope="row" align="left" | AIMs (Eur/African Ancestry) |
| + | | align="right" | 3,388 |
| + | | align="right" | 3,283 |
| + | | |
| + | |- |
| + | ! bgcolor="lightgray" scope="row" align="left" | AIMs (Native American Ancestry) |
| + | | bgcolor="lightgray" scope="row" align="right" | 1,000 |
| + | | bgcolor="lightgray" scope="row" align="right" | 962 |
| + | | bgcolor="lightgray" scope="row" align="right" | |
| + | |- |
| + | ! scope="row" align="left" | AIMs (Other) |
| + | | align="right" | 271 |
| + | | align="right" | 271 |
| + | | Includes supplemental AIMs from the Latin American Cancer <br> Epidemiology (LACE) Consortium. |
| + | |- |
| + | ! bgcolor="lightgray" scope="row" align="left" | HLA |
| + | | bgcolor="lightgray" scope="row" align="right" | 2,536 |
| + | | bgcolor="lightgray" scope="row" align="right"| 2,262 |
| + | | bgcolor="lightgray" scope="row" align="right" | |
| + | |- |
| + | ! scope="row" align="left" | ESP |
| + | | align="right" | 1,003 |
| + | | align="right" | 952 |
| + | | |
| + | |- |
| + | ! bgcolor="lightgray" scope="row" align="left" | Fingerprint |
| + | | bgcolor="lightgray" scope="row" align="right" | 285 |
| + | | bgcolor="lightgray" scope="row" align="right" | 268 |
| + | | bgcolor="lightgray" scope="row" align="right" | |
| + | |- |
| + | ! scope="row" align="left" | miRNA |
| + | | align="right" | 285 |
| + | | align="right" | 250 |
| + | | |
| + | |- |
| + | ! bgcolor="lightgray" scope="row" align="left" | Mitochondrial DNA |
| + | | bgcolor="lightgray" scope="row" align="right"| 246 |
| + | | bgcolor="lightgray" scope="row" align="right"| 207 |
| + | | bgcolor="lightgray" scope="row" align="right" | |
| + | |- |
| + | ! scope="row" align="left" | Chromosome Y |
| + | | align="right" | 232 |
| + | | align="right" | 161 |
| + | | |
| + | |- |
| + | ! bgcolor="lightgray" scope="row" align="left" | Indels |
| + | | bgcolor="lightgray" scope="row" align="right" | 56,095 |
| + | | bgcolor="lightgray" scope="row" align="right" | 35,137 |
| + | | bgcolor="lightgray" scope="row" | Includes biallelic indels from the draft Phase 1 1000 Genomes Project <br> and previously validated indels in the Axiom Genomic Database; <br> indel size ranges from 1-138bp. |
| + | |- |
| + | ! scope="row" | |
| + | | align="right" | |
| + | | align="right" | |
| + | | |
| + | |- |
| + | ! bgcolor="lightblue" scope="row" border = "1"| Total Number Target Variants |
| + | | bgcolor="lightblue" align="right" | 369,656 |
| + | | bgcolor="lightblue" align="right" | 318,983 |
| + | | bgcolor="lightblue" | |
| + | |} |