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Table 2 Sensitivity and specificity before and after family adjustment in simulation study

From: Copy number variation genotyping using family information

 

Sensitivity

 

SNR

3

4

5

6

7

MAF=0.1

Unadjusted

0.9095

0.9240

0.9773

0.9942

0.9988

 

Family adjusted

0.7106

0.9114

0.9757

0.9937

0.9987

MAF=0.2

Unadjusted

0.9340

0.9777

0.9946

0.9990

0.9991

 

Family adjusted

0.8828

0.9698

0.9922

0.9984

0.9997

MAF=0.3

Unadjusted

0.9368

0.9796

0.9925

0.9852

0.9812

 

Family adjusted

0.8570

0.9733

0.9950

0.9990

0.9991

 

Specificity

 

SNR

3

4

5

6

7

MAF=0.1

Unadjusted

0.2867

0.9789

0.9946

0.9990

0.9999

 

Family adjusted

0.9411

0.9864

0.9961

0.9993

0.9999

MAF=0.2

Unadjusted

0.8975

0.9591

0.9776

0.8582

0.6295

 

Family adjusted

0.9468

0.9740

0.9917

0.9981

0.9997

MAF=0.3

Unadjusted

0.9353

0.9800

0.9919

0.9812

0.9760

 

Family adjusted

0.8991

0.9684

0.9927

0.9984

0.9990

 

Overall accuracy

 

SNR

3

4

5

6

7

MAF=0.1

Unadjusted

0.5253

0.9707

0.9838

0.9878

0.9888

 

Family adjusted

0.9274

0.9697

0.9838

0.9878

0.9888

MAF=0.2

Unadjusted

0.9244

0.9704

0.9620

0.8996

0.7848

 

Family adjusted

0.9152

0.9708

0.9915

0.9980

0.9997

MAF=0.3

Unadjusted

0.8761

0.9709

0.9895

0.9809

0.9761

 

Family adjusted

0.8282

0.9545

0.9896

0.9977

0.9987