-
1
-
-
84975795680
-
An integrated map of genetic variation from 1, 092 human genomes
-
Abecasis, G.R. et al. (2012) An integrated map of genetic variation from 1, 092 human genomes. Nature, 491, 56-65.
-
(2012)
Nature
, vol.491
, pp. 56-65
-
-
Abecasis, G.R.1
-
2
-
-
0000937686
-
Tests for linear trends in proportions and frequencies
-
Armitage, P. (1955) Tests for linear trends in proportions and frequencies. Biometrics, 11, 375-386.
-
(1955)
Biometrics
, vol.11
, pp. 375-386
-
-
Armitage, P.1
-
3
-
-
80054728031
-
Comparison of statistical tests for disease association with rare variants
-
Basu, S. and Pan, W. (2011) Comparison of statistical tests for disease association with rare variants. Genet. Epidemiol., 35, 606-619.
-
(2011)
Genet. Epidemiol.
, vol.35
, pp. 606-619
-
-
Basu, S.1
Pan, W.2
-
4
-
-
84860364689
-
A powerful test for multiple rare variants association studies that incorporates sequencing qualities
-
Daye, Z.J. et al. (2012) A powerful test for multiple rare variants association studies that incorporates sequencing qualities. Nucleic Acids Res., 40, e60.
-
(2012)
Nucleic Acids Res.
, vol.40
-
-
Daye, Z.J.1
-
5
-
-
79955483667
-
A framework for variation discovery and genotyping using next-generation DNA sequencing data
-
DePristo, M.A. et al. (2011) A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat. Genet., 43, 491-498.
-
(2011)
Nat. Genet.
, vol.43
, pp. 491-498
-
-
DePristo, M.A.1
-
6
-
-
84905003356
-
Pooled association tests for rare genetic variants: A review and some new results
-
To appear
-
Derkach, A. et al. (2012) Pooled association tests for rare genetic variants: A review and some new results. Statistical Science. To appear.
-
(2012)
Statistical Science.
-
-
Derkach, A.1
-
7
-
-
74949138753
-
Human genome sequencing using unchained base reads on self-Assembling DNA nanoarrays
-
Drmanac, R. et al. (2010) Human genome sequencing using unchained base reads on self-Assembling DNA nanoarrays. Science, 327, 78-81.
-
(2010)
Science
, vol.327
, pp. 78-81
-
-
Drmanac, R.1
-
8
-
-
79959544447
-
Confounded by sequencing depth in association studies of rare alleles
-
Garner, C. (2011) Confounded by sequencing depth in association studies of rare alleles. Genet. Epidemiol., 35, 261-268.
-
(2011)
Genet. Epidemiol.
, vol.35
, pp. 261-268
-
-
Garner, C.1
-
9
-
-
3242755608
-
Bootstrap test for difference between means in nonparametric regression
-
Hall, P. and Hart, J.D. (1990) Bootstrap test for difference between means in nonparametric regression. J. Am. Stat. Assoc., 85, 1039-1049.
-
(1990)
J. Am. Stat. Assoc.
, vol.85
, pp. 1039-1049
-
-
Hall, P.1
Hart, J.D.2
-
10
-
-
79958078775
-
Estimation of allele frequency and association mapping using next-generation sequencing data
-
Kim, S.Y. et al. (2011) Estimation of allele frequency and association mapping using next-generation sequencing data. BMC Bioinformatics, 12, 231.
-
(2011)
BMC Bioinformatics
, vol.12
, pp. 231
-
-
Kim, S.Y.1
-
11
-
-
84864953892
-
Optimal tests for rare variant effects in sequencing association studies
-
Lee, S. et al. (2012) Optimal tests for rare variant effects in sequencing association studies. Biostatistics, 13, 762-775.
-
(2012)
Biostatistics
, vol.13
, pp. 762-775
-
-
Lee, S.1
-
12
-
-
68549104404
-
The Sequence Alignment/Map format and SAMtools
-
Li, H. et al. (2009) The Sequence Alignment/Map format and SAMtools. Bioinformatics, 25, 2078-2079.
-
(2009)
Bioinformatics
, vol.25
, pp. 2078-2079
-
-
Li, H.1
-
13
-
-
84863995321
-
SEQCHIP: A powerful method to integrate sequence and genotype data for the detection of rare variant associations
-
Liu, D.J. and Leal, S.M. (2012) SEQCHIP: A powerful method to integrate sequence and genotype data for the detection of rare variant associations. Bioinformatics, 28, 1745-1751.
-
(2012)
Bioinformatics
, vol.28
, pp. 1745-1751
-
-
Liu, D.J.1
Leal, S.M.2
-
14
-
-
78650854718
-
Three ways of combining genotyping and resequencing in case-control association studies
-
Longmate, J.A. et al. (2010) Three ways of combining genotyping and resequencing in case-control association studies. PLoS One, 5, e14318.
-
(2010)
PLoS One
, vol.5
-
-
Longmate, J.A.1
-
15
-
-
61449168010
-
A groupwise association test for rare mutations using a weighted sum statistic
-
Madsen, B.E. and Browning, S.R. (2009) A groupwise association test for rare mutations using a weighted sum statistic. PLoS Genet., 5, e1000384.
-
(2009)
PLoS Genet.
, vol.5
-
-
Madsen, B.E.1
Browning, S.R.2
-
16
-
-
77956295988
-
TheGenome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
-
McKenna, A. et al. (2010) TheGenome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data. Genome. Res., 20, 1297-1303.
-
(2010)
Genome. Res.
, vol.20
, pp. 1297-1303
-
-
McKenna, A.1
-
17
-
-
33846014328
-
A strategy to discover genes that carry multi-Allelic or mono-Allelic risk for common diseases: A cohort allelic sums test (CAST
-
Morgenthaler, S. and Thilly, W.G. (2007) A strategy to discover genes that carry multi-Allelic or mono-Allelic risk for common diseases: A cohort allelic sums test (CAST). Mutat. Res., 615, 28-56.
-
(2007)
Mutat. Res.
, vol.615
, pp. 28-56
-
-
Morgenthaler, S.1
Thilly, W.G.2
-
18
-
-
79953752624
-
Testing for an unusual distribution of rare variants
-
Neale, B. et al. (2011) Testing for an unusual distribution of rare variants. PLoS. Genet., 7, e1001322.
-
(2011)
PLoS. Genet.
, vol.7
-
-
Neale, B.1
-
19
-
-
79956314887
-
Genotype and SNP calling from next-generation sequencing data
-
Nielsen, R. et al. (2011) Genotype and SNP calling from next-generation sequencing data. Nat. Rev. Genet., 12, 443-451.
-
(2011)
Nat. Rev. Genet.
, vol.12
, pp. 443-451
-
-
Nielsen, R.1
-
20
-
-
79960943621
-
Fine mapping of five loci associated with low-density lipoprotein cholesterol detects variants that double the explained heritability
-
Sanna, S. et al. (2011) Fine mapping of five loci associated with low-density lipoprotein cholesterol detects variants that double the explained heritability. PLoS Genet., 7, e1002198.
-
(2011)
PLoS Genet.
, vol.7
-
-
Sanna, S.1
-
21
-
-
79960666840
-
Retraction
-
Sebastiani, P. et al. (2011) Retraction. Science, 333, 404.
-
(2011)
Science
, vol.333
, pp. 404
-
-
Sebastiani, P.1
-
22
-
-
84862249935
-
Association testing for next-generation sequencing data using score statistics
-
Skotte, L. et al. (2012) Association testing for next-generation sequencing data using score statistics. Genet. Epidemiol., 36, 430-437.
-
(2012)
Genet. Epidemiol.
, vol.36
, pp. 430-437
-
-
Skotte, L.1
-
23
-
-
69249246953
-
Centrotemporal sharp wave eeg trait in rolandic epilepsy maps to elongator protein complex 4 (elp4)
-
Strug, L.J. et al. (2009) Centrotemporal sharp wave EEG trait in rolandic epilepsy maps to Elongator Protein Complex 4 (ELP4). Eur. J. Hum. Genet., 17, 1171-1181.
-
(2009)
Eur. J. Hum. Genet.
, vol.17
, pp. 1171-1181
-
-
Strug, L.J.1
-
24
-
-
84969213492
-
Genome-wide association study of 14, 000 cases of seven common diseases and 3, 000 shared controls
-
The Wellcome Trust Case Control Consortium.
-
The Wellcome Trust Case Control Consortium. (2007) Genome-wide association study of 14, 000 cases of seven common diseases and 3, 000 shared controls. Nature, 447, 661-678.
-
(2007)
Nature
, vol.447
, pp. 661-678
-
-
-
25
-
-
80051499915
-
Rare-variant association testing for sequencing data with the sequence kernel association test
-
Wu, M.C. et al. (2011) Rare-variant association testing for sequencing data with the sequence kernel association test. Am. J. Hum. Genet., 89, 82-93.
-
(2011)
Am. J. Hum. Genet.
, vol.89
, pp. 82-93
-
-
Wu, M.C.1
|