[1] |
Morgenthaler S, Thilly W G. A strategy to discover genes that carry multi-allelic or mono-allelic risk for common diseases: A cohort allelic sums test (CAST)[J]. Mutation Research, 2007, 615:28-56.
|
[2] |
Li B, Leal S M. Methods for detecting association with rare variants for common diseases: Application to analysis of sequence data[J]. Am J Hum Genet, 2008, 83:311-321.
|
[3] |
Madsen B E, Browning S R. A groupwise association test for rare mutations using a weighter sum statistic[J]. PLoS Genet, 2009, 5: e1000384.
|
[4] |
Price A L, Kryukov G V, de Bakker P I W, et al. Pooled association tests for rare variants in exon-resequencing studies[J]. Am J Hum Genet, 2010, 86: 832-838.
|
[5] |
Sha Q, Wang X, Wang X, et al. Detecting association of rare and common variants by testing an optimally weighted combination of variants[J]. Genetic Epidemiology, 2012, 36:561-71.
|
[6] |
Fang H, Hou B, Wang Q, et al. Rare variants analysis by riskbased variable-threshold method[J]. Comput Biol Chem, 2013, 46:32-38.
|
[7] |
Neale B M, Rivas M A, Voight B F, et al. Testing for an unusual distribution of rare variants[J]. PLoS Genet, 2011, 7: e1001322.
|
[8] |
Wu M C, Lee S, Cai T, et al. Rare-variant association testing for sequencing data with the sequence kernel association test[J]. The American Journal of Human Genetics, 2011, 89:82-93.
|
[9] |
Falk M, Hüsler J, Reiss R D. Laws of Small Numbers: Extremes and Rare Events[M]. 3rd ed. Birkhuser: Springer, 2011.
|
[10] |
Pritchard J K. Are rare variants responsible for susceptibility to complex disease? [J]. Am J Hum Genet, 2001, 69:124-137.
|
[11] |
Wrights S. Evolution in Mendelian populations[J]. Genetics, 1931, 16:97-159.
|
[12] |
Ewens W J. Mathematical Population Genetics[M]. 2nd ed. Berlin: Springer, 2004.
|
[13] |
Pritchard J K, Cox N J. The allelic architecture of human disease genes: common disease-common variant … or not?[J]. Hum Mol Genet, 2002, 11:2 417-2 423.
|
[14] |
Pan W, Shen X T. Adaptive tests for association analysis of rare variants [J]. Genetic Epidemiology, 2011, 35: 381-388.
|
[1] |
Morgenthaler S, Thilly W G. A strategy to discover genes that carry multi-allelic or mono-allelic risk for common diseases: A cohort allelic sums test (CAST)[J]. Mutation Research, 2007, 615:28-56.
|
[2] |
Li B, Leal S M. Methods for detecting association with rare variants for common diseases: Application to analysis of sequence data[J]. Am J Hum Genet, 2008, 83:311-321.
|
[3] |
Madsen B E, Browning S R. A groupwise association test for rare mutations using a weighter sum statistic[J]. PLoS Genet, 2009, 5: e1000384.
|
[4] |
Price A L, Kryukov G V, de Bakker P I W, et al. Pooled association tests for rare variants in exon-resequencing studies[J]. Am J Hum Genet, 2010, 86: 832-838.
|
[5] |
Sha Q, Wang X, Wang X, et al. Detecting association of rare and common variants by testing an optimally weighted combination of variants[J]. Genetic Epidemiology, 2012, 36:561-71.
|
[6] |
Fang H, Hou B, Wang Q, et al. Rare variants analysis by riskbased variable-threshold method[J]. Comput Biol Chem, 2013, 46:32-38.
|
[7] |
Neale B M, Rivas M A, Voight B F, et al. Testing for an unusual distribution of rare variants[J]. PLoS Genet, 2011, 7: e1001322.
|
[8] |
Wu M C, Lee S, Cai T, et al. Rare-variant association testing for sequencing data with the sequence kernel association test[J]. The American Journal of Human Genetics, 2011, 89:82-93.
|
[9] |
Falk M, Hüsler J, Reiss R D. Laws of Small Numbers: Extremes and Rare Events[M]. 3rd ed. Birkhuser: Springer, 2011.
|
[10] |
Pritchard J K. Are rare variants responsible for susceptibility to complex disease? [J]. Am J Hum Genet, 2001, 69:124-137.
|
[11] |
Wrights S. Evolution in Mendelian populations[J]. Genetics, 1931, 16:97-159.
|
[12] |
Ewens W J. Mathematical Population Genetics[M]. 2nd ed. Berlin: Springer, 2004.
|
[13] |
Pritchard J K, Cox N J. The allelic architecture of human disease genes: common disease-common variant … or not?[J]. Hum Mol Genet, 2002, 11:2 417-2 423.
|
[14] |
Pan W, Shen X T. Adaptive tests for association analysis of rare variants [J]. Genetic Epidemiology, 2011, 35: 381-388.
|