津田班 tsuda-crest 2015/12/24 京大 山田 yamada, kyoto-u

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津津津 Tsuda-CREST 2015/12/24 津津 津津 Yamada, KYOTO-U

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LAMPLINK; a toy case Candidate gene data set in DM 2000 case 2000 controls 37 SNPs RUN LAMPLINK with data commmand./lamplink --file./cg/cg --lamp --model-dom --sglev upper out./cg/cgdom -- fisher options model dom: minor allele is dominant; sglev (value): set statistical significance level (default 0.05) upper(value): set MAF value 0.5 fisher: use Fisher’s exact test LAMPLINK result in lamp file

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Page 1: 津田班 Tsuda-CREST 2015/12/24 京大 山田 Yamada, KYOTO-U

津田班Tsuda-CREST

2015/12/24京大 山田Yamada, KYOTO-U

Page 2: 津田班 Tsuda-CREST 2015/12/24 京大 山田 Yamada, KYOTO-U

LAMP(1)LAMPLINK

• on RA GWAS • LAMPLINK with parallel implementation

– On going…

Page 3: 津田班 Tsuda-CREST 2015/12/24 京大 山田 Yamada, KYOTO-U

LAMPLINK; a toy caseCandidate gene data set in DM• 2000 case 2000 controls • 37 SNPsRUN LAMPLINK with datacommmand• ./lamplink --file ./cg/cg --lamp --model-dom --sglev 0.05 --upper 0.5 --out ./cg/cgdom --

fisheroptionsmodel dom: minor allele is dominant;sglev (value): set statistical significance level (default 0.05)upper(value): set MAF value 0.5fisher: use Fisher’s exact test LAMPLINK result in lamp file

Page 4: 津田班 Tsuda-CREST 2015/12/24 京大 山田 Yamada, KYOTO-U

LAMPLINKCandidate gene data set in DM• 2000 case 2000 controls • 37 SNPsRUN LAMPLINK with datacommmand• ./lamplink --file ./cg/cg --lamp --model-dom --sglev 0.05 --upper 0.5 --out ./cg/cgdom --

fisheroptionsmodel dom: minor allele is dominant;sglev (value): set statistical significance level (default 0.05)upper(value): set MAF value 0.5fisher: use Fisher’s exact test LAMPLINK result in lamp file

Page 5: 津田班 Tsuda-CREST 2015/12/24 京大 山田 Yamada, KYOTO-U

LAMPLINK; p-distribution

Page 6: 津田班 Tsuda-CREST 2015/12/24 京大 山田 Yamada, KYOTO-U

Many SNPs in an Intermediate LD locus: SNP-pair p-val dist

Small p-dominant

Large p-dominant

Page 7: 津田班 Tsuda-CREST 2015/12/24 京大 山田 Yamada, KYOTO-U

Mean of 100 experimentsof SNP-pair p-vals

Mean: 0.498

Page 8: 津田班 Tsuda-CREST 2015/12/24 京大 山田 Yamada, KYOTO-U

LAMP(2)

• P-value distribution of n-arities for Data sets with LD/dependencies– Uniform– Large-p dominant– Small-p dominant

• Locus-wise, Case-wise p-dist heterogeneity– If repeated, overall p-dist seems uniform

• Q: Anything should be done for the interpretation of nominal p in this deviated distribution or not?

Page 9: 津田班 Tsuda-CREST 2015/12/24 京大 山田 Yamada, KYOTO-U

LAMPLINKCandidate gene data set in DM• 2000 case 2000 controls • 37 SNPsRUN LAMPLINK with datacommmand• ./lamplink --file ./cg/cg --lamp --model-dom --sglev 0.05 --upper 0.5 --out ./cg/cgdom --

fisheroptionsmodel dom: minor allele is dominant;sglev (value): set statistical significance level (default 0.05)upper(value): set MAF value 0.5fisher: use Fisher’s exact test LAMPLINK result in lamp file

Page 10: 津田班 Tsuda-CREST 2015/12/24 京大 山田 Yamada, KYOTO-U

Combinations ~ Itemsets ~ZDD(1)

• Nysol; ZDD– ZDD objects of 2x2 tables’ marginal counts and [1,1] cell

counts– ZDD object algebra (+ - * / % > < == !=)– Statistical test calculations are too complicated to be

done with ZDD object algebra but effect size calculations can be done.

–Q: How to bring the results to “statistical judgement”? : Monte-carlo permuation?

• Under the trial

Page 11: 津田班 Tsuda-CREST 2015/12/24 京大 山田 Yamada, KYOTO-U

Combinations ~ Itemsets ~ZDD(2)

• For multiple phenotypes, combination analyses results can be stocked in the shape of ZDD.

• Inter-phenotype results on combinations might be integrated with ZDD.

Page 12: 津田班 Tsuda-CREST 2015/12/24 京大 山田 Yamada, KYOTO-U

Combinations, Simplices

• Anything good to use simplex symmetricity ?

Page 13: 津田班 Tsuda-CREST 2015/12/24 京大 山田 Yamada, KYOTO-U

Simplex

Page 14: 津田班 Tsuda-CREST 2015/12/24 京大 山田 Yamada, KYOTO-U

Simplex and 2x3 contingency table

• Whiteboard

Page 15: 津田班 Tsuda-CREST 2015/12/24 京大 山田 Yamada, KYOTO-U

Simplex and df=1 tests inarbitrary dimensional tables

• Whiteboard

Page 16: 津田班 Tsuda-CREST 2015/12/24 京大 山田 Yamada, KYOTO-U

Test vectors and “LAMPLINK combination tests” in 2x4 table

Page 17: 津田班 Tsuda-CREST 2015/12/24 京大 山田 Yamada, KYOTO-U

Special Case Contingency tableEvery sample is different

• Whiteboard

Page 18: 津田班 Tsuda-CREST 2015/12/24 京大 山田 Yamada, KYOTO-U

Simplex’s geometric features (symmetricity)

might be utilized … how???• LAR (Least Angle Regression)

– Returns similar results with Lasso– http://

d.hatena.ne.jp/isseing333/20110309/1299675311

Page 19: 津田班 Tsuda-CREST 2015/12/24 京大 山田 Yamada, KYOTO-U

LAR on simplex

• Because LAR uses “angles” and simplex-representation has obvious angle information in it, LAR might be solved in quicker/lighter way???

• In case of “discrete” state, LAR’s output should be “intergers” or “rationals” with “AND/OR” logic.

Page 20: 津田班 Tsuda-CREST 2015/12/24 京大 山田 Yamada, KYOTO-U

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