-
1
-
-
79957589237
-
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations
-
Oroak B. J, et al. Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. Nat Genet 43, 585-589 (2011
-
(2011)
Nat Genet
, vol.43
, pp. 585-589
-
-
Oroak, B.J.1
-
2
-
-
84879001958
-
De novo mutations in histone-modifying genes in congenital heart disease
-
Zaidi S, et al. De novo mutations in histone-modifying genes in congenital heart disease. Nature 498, 220-223 (2013
-
(2013)
Nature
, vol.498
, pp. 220-223
-
-
Zaidi, S.1
-
3
-
-
79956314887
-
Genotype and SNP calling from next-generation sequencing data
-
Nielsen R, Paul J. S, Albrechtsen A, & Song Y. S. Genotype and SNP calling from next-generation sequencing data. Nature reviews. Genetics 12, 443-451 (2011
-
(2011)
Nature Reviews. Genetics
, vol.12
, pp. 443-451
-
-
Nielsen, R.1
Paul, J.S.2
Albrechtsen, A.3
Song, Y.S.4
-
4
-
-
30044440451
-
Genotyping errors: Causes, consequences and solutions
-
Pompanon F, Bonin A, Bellemain E, & Taberlet P. Genotyping errors: causes, consequences and solutions. Nature reviews. Genetics 6, 847-859 (2005
-
(2005)
Nature Reviews. Genetics
, vol.6
, pp. 847-859
-
-
Pompanon, F.1
Bonin, A.2
Bellemain, E.3
Taberlet, P.4
-
5
-
-
84875312984
-
Low concordance of multiple variant-calling pipelines: Practical implications for exome and genome sequencing
-
Orawe J, et al. Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing. Genome Med 5, 28 (2013
-
(2013)
Genome Med
, vol.5
, pp. 28
-
-
Orawe, J.1
-
6
-
-
1842859051
-
Power and sample size calculations for case-control genetic association tests when errors are present: Application to single nucleotide polymorphisms
-
Gordon D, Finch S. J, Nothnagel M, & Ott J. Power and sample size calculations for case-control genetic association tests when errors are present: application to single nucleotide polymorphisms. Human heredity 54, 22-33 (2002
-
(2002)
Human Heredity
, vol.54
, pp. 22-33
-
-
Gordon, D.1
Finch, S.J.2
Nothnagel, M.3
Ott, J.4
-
7
-
-
34047274759
-
The effects of SNP genotyping errors on the power of the Cochran-Armitage linear trend test for case/control association studies
-
Ahn K, et al. The effects of SNP genotyping errors on the power of the Cochran-Armitage linear trend test for case/control association studies. Annals of human genetics 71, 249-261 (2007
-
(2007)
Annals of Human Genetics
, vol.71
, pp. 249-261
-
-
Ahn, K.1
-
8
-
-
79953752624
-
Testing for an unusual distribution of rare variants
-
Neale B. M, et al. Testing for an unusual distribution of rare variants. PLoS Genet 7, e1001322 (2011
-
(2011)
PLoS Genet
, vol.7
, pp. e1001322
-
-
Neale, B.M.1
-
9
-
-
50949095168
-
Methods for detecting associations with rare variants for common diseases: Application to analysis of sequence data
-
Li B, & Leal S. M. Methods for detecting associations with rare variants for common diseases: application to analysis of sequence data. Am J Hum Genet 83, 311-321 (2008
-
(2008)
Am J Hum Genet
, vol.83
, pp. 311-321
-
-
Li, B.1
Leal, S.M.2
-
10
-
-
83455212184
-
Risk assessment model for development of advanced agerelated macular degeneration
-
Klein M. L, Francis P. J, Ferris F. L. 3rd, Hamon S. C, & Clemons T. E. Risk assessment model for development of advanced agerelated macular degeneration. Archives of ophthalmology 129, 1543-1550 (2011
-
(2011)
Archives of Ophthalmology
, vol.129
, pp. 1543-1550
-
-
Klein, M.L.1
Francis, P.J.2
Ferris, F.L.3
Hamon, S.C.4
Clemons, T.E.5
-
11
-
-
78049425657
-
A novel statistic for genome-wide interaction analysis
-
Wu X, et al A novel statistic for genome-wide interaction analysis. PLoS Genet 6, e1001131 (2010
-
(2010)
PLoS Genet
, vol.6
, pp. e1001131
-
-
Wu, X.1
-
12
-
-
84872380261
-
Sequence kernel association test for quantitative traits in family samples
-
Chen H, Meigs J. B, & Dupuis J. Sequence kernel association test for quantitative traits in family samples. Genetic epidemiology 37, 196-204 (2013
-
(2013)
Genetic Epidemiology
, vol.37
, pp. 196-204
-
-
Chen, H.1
Meigs, J.B.2
Dupuis, J.3
-
13
-
-
84862152665
-
Family-based association studies for next-generation sequencing
-
Zhu Y, & Xiong M. Family-based association studies for next-generation sequencing. Am J Hum Genet 90, 1028-1045 (2012
-
(2012)
Am J Hum Genet
, vol.90
, pp. 1028-1045
-
-
Zhu, Y.1
Xiong, M.2
-
14
-
-
84869123399
-
Snp set association analysis for familial data
-
Schifano E. D, et al. SNP Set Association Analysis for Familial Data. Genet Epidemiol 36, 797-810 (2012
-
(2012)
Genet Epidemiol
, vol.36
, pp. 797-810
-
-
Schifano, E.D.1
-
15
-
-
84874632410
-
Assessing the impact of differential genotyping errors on rare variant tests of association
-
Mayer-Jochimsen M, Fast S, & Tintle N. L. Assessing the impact of differential genotyping errors on rare variant tests of association. PloS one 8, e56626 (2013
-
(2013)
PloS One
, vol.8
, pp. e56626
-
-
Mayer-Jochimsen, M.1
Fast, S.2
Tintle, N.L.3
-
16
-
-
82255175718
-
Assessing the impact of non-differential genotyping errors on rare variant tests of association
-
Powers S, Gopalakrishnan S, & Tintle N. Assessing the impact of non-differential genotyping errors on rare variant tests of association. Human heredity 72, 153-160 (2011
-
(2011)
Human Heredity
, vol.72
, pp. 153-160
-
-
Powers, S.1
Gopalakrishnan, S.2
Tintle, N.3
-
17
-
-
84975721896
-
Analyzing the behavior and interpreting the results of gene based tests of rare variants
-
Tintle N. Analyzing the behavior and interpreting the results of gene based tests of rare variants. NHGRI (2013
-
(2013)
NHGRI
-
-
Tintle, N.1
-
18
-
-
84946186974
-
A haplotype-based framework for group-wise transmission/disequilibrium tests for rare variant association analysis
-
Chen R, et al A haplotype-based framework for group-wise transmission/disequilibrium tests for rare variant association analysis. Bioinformatics 31, 1452-1459 (2015
-
(2015)
Bioinformatics
, vol.31
, pp. 1452-1459
-
-
Chen, R.1
-
19
-
-
0027377799
-
Transmission test for linkage disequilibrium: The insulin gene region and insulindependent diabetes mellitus (IDDM
-
Spielman R. S, McGinnis R. E, & Ewens W. J. Transmission Test for Linkage Disequilibrium: The Insulin Gene Region and Insulindependent Diabetes Mellitus (IDDM). American Journal of Human Genetics 52, 506-516 (1993
-
(1993)
American journal of human genetics
, vol.52
, pp. 506-516
-
-
Spielman, R.S.1
McGinnis, R.E.2
Ewens, W.J.3
-
20
-
-
84878589007
-
Improving the accuracy and efficiency of identity-by-descent detection in population data
-
Browning B. L, & Browning S. R. Improving the accuracy and efficiency of identity-by-descent detection in population data. Genetics 194, 459-471 (2013
-
(2013)
Genetics
, vol.194
, pp. 459-471
-
-
Browning, B.L.1
Browning, S.R.2
-
21
-
-
84868138663
-
A likelihood-based framework for variant calling and de novo mutation detection in families
-
Li B, et al A likelihood-based framework for variant calling and de novo mutation detection in families. PLoS genetics 8, e1002944 (2012
-
(2012)
PLoS Genetics
, vol.8
, pp. e1002944
-
-
Li, B.1
-
22
-
-
0037371453
-
Undetected genotyping errors cause apparent overtransmission of common alleles in the transmission/disequilibrium test
-
Mitchell A. A, Cutler D. J, & Chakravarti A. Undetected genotyping errors cause apparent overtransmission of common alleles in the transmission/disequilibrium test. American journal of human genetics 72, 598-610 (2003
-
(2003)
American Journal of Human Genetics
, vol.72
, pp. 598-610
-
-
Mitchell, A.A.1
Cutler, D.J.2
Chakravarti, A.3
-
23
-
-
84943171338
-
A global reference for human genetic variation
-
Genomes Project C, et al A global reference for human genetic variation. Nature 526, 68-74 (2015
-
(2015)
Nature
, vol.526
, pp. 68-74
-
-
Genomes Project, C.1
-
24
-
-
34548292504
-
PLINK: A tool set for whole-genome association and population-based linkage analyses
-
Purcell S, et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. American journal of human genetics 81, 559-575 (2007
-
(2007)
American Journal of Human Genetics
, vol.81
, pp. 559-575
-
-
Purcell, S.1
-
25
-
-
80051499915
-
Rare-variant association testing for sequencing data with the sequence kernel association test
-
Wu M. C, et al. Rare-variant association testing for sequencing data with the sequence kernel association test. American journal of human genetics 89, 82-93 (2011
-
(2011)
American Journal of Human Genetics
, vol.89
, pp. 82-93
-
-
Wu, M.C.1
-
26
-
-
84925407875
-
A sequence kernel association test for dichotomous traits in family samples under a generalized linear mixed model
-
Yan Q, et al A Sequence Kernel Association Test for Dichotomous Traits in Family Samples under a Generalized Linear Mixed Model. Human heredity 79, 60-68 (2015
-
(2015)
Human Heredity
, vol.79
, pp. 60-68
-
-
Yan, Q.1
-
27
-
-
84966459701
-
Rare-variant kernel machine test for longitudinal data from population and family samples
-
Yan Q, et al. Rare-Variant Kernel Machine Test for Longitudinal Data from Population and Family Samples. Human heredity 80, 126-138 (2016
-
(2016)
Human Heredity
, vol.80
, pp. 126-138
-
-
Yan, Q.1
-
28
-
-
84957824542
-
Associating multivariate quantitative phenotypes with genetic variants in family samples with a novel kernel machine regression method
-
Yan Q, et al. Associating Multivariate Quantitative Phenotypes with Genetic Variants in Family Samples with a Novel Kernel Machine Regression Method. Genetics 201, 1329-1339 (2015
-
(2015)
Genetics
, vol.201
, pp. 1329-1339
-
-
Yan, Q.1
-
29
-
-
84890799153
-
Parental broader autism subphenotypes in ASD affected families: Relationship to gender, child?s symptoms, SSRI treatment, and platelet serotonin. Autism research official
-
Levin-Decanini T, et al. Parental broader autism subphenotypes in ASD affected families: relationship to gender, child?s symptoms, SSRI treatment, and platelet serotonin. Autism research: official journal of the International Society for Autism Research 6, 621-630 (2013
-
(2013)
Journal of the International Society for Autism Research
, vol.6
, pp. 621-630
-
-
Levin-Decanini, T.1
|