-
1
-
-
67249117049
-
Potential etiologic and functional implications of genome-wide association loci for human diseases and traits
-
Hindorff, L. A. et al. Potential etiologic and functional implications of genome-wide association loci for human diseases and traits. Proc. Natl Acad. Sci. USA 106, 9362-9367 (2009).
-
(2009)
Proc. Natl Acad. Sci. USA
, vol.106
, pp. 9362-9367
-
-
Hindorff, L.A.1
-
2
-
-
42349112088
-
Genome-wide association studies for complex traits: Consensus, uncertainty and challenges
-
DOI 10.1038/nrg2344, PII NRG2344
-
McCarthy, M. I. et al. Genome-wide association studies for complex traits: consensus, uncertainty and challenges. Nature Rev. Genet. 9, 356-369 (2008). (Pubitemid 351556063)
-
(2008)
Nature Reviews Genetics
, vol.9
, Issue.5
, pp. 356-369
-
-
McCarthy, M.I.1
Abecasis, G.R.2
Cardon, L.R.3
Goldstein, D.B.4
Little, J.5
Ioannidis, J.P.A.6
Hirschhorn, J.N.7
-
3
-
-
39649108872
-
Genome-wide significance for dense SNP and resequencing data
-
DOI 10.1002/gepi.20292
-
Hoggart, C. J., Clark, T. G., De Iorio, M., Whittaker, J. C. & Balding, D. J. Genome-wide significance for dense SNP and resequencing data. Genet. Epidemiol. 32, 179-185 (2008). (Pubitemid 351288034)
-
(2008)
Genetic Epidemiology
, vol.32
, Issue.2
, pp. 179-185
-
-
Hoggart, C.J.1
Clark, T.G.2
De Iorio, M.3
Whittaker, J.C.4
Balding, D.J.5
-
4
-
-
77952574849
-
Uncovering the roles of rare variants in common disease through whole-genome sequencing
-
Cirulli, E. T. & Goldstein, D. B. Uncovering the roles of rare variants in common disease through whole-genome sequencing. Nature Rev. Genet. 11, 415-425 (2010).
-
(2010)
Nature Rev. Genet.
, vol.11
, pp. 415-425
-
-
Cirulli, E.T.1
Goldstein, D.B.2
-
5
-
-
80054746492
-
Exome sequencing as a tool for Mendelian disease gene discovery
-
Bamshad, M. J. et al. Exome sequencing as a tool for Mendelian disease gene discovery. Nature Rev. Genet. 12, 745-755 (2011).
-
(2011)
Nature Rev. Genet.
, vol.12
, pp. 745-755
-
-
Bamshad, M.J.1
-
6
-
-
77956838065
-
Advances in understanding cancer genomes through second-generation sequencing
-
Meyerson, M., Gabriel, S. & Getz, G. Advances in understanding cancer genomes through second-generation sequencing. Nature Rev. Genet. 11, 685-696 (2010).
-
(2010)
Nature Rev. Genet.
, vol.11
, pp. 685-696
-
-
Meyerson, M.1
Gabriel, S.2
Getz, G.3
-
7
-
-
78650791604
-
Analysis of next-generation genomic data in cancer: Accomplishments and challenges
-
Ding, L., Wendl, M. C., Koboldt, D. C. & Mardis, E. R. Analysis of next-generation genomic data in cancer: accomplishments and challenges. Hum. Mol. Genet. 19, R188-R196 (2010).
-
(2010)
Hum. Mol. Genet.
, vol.19
-
-
Ding, L.1
Wendl, M.C.2
Koboldt, D.C.3
Mardis, E.R.4
-
8
-
-
53649106195
-
Next-generation DNA sequencing
-
Shendure, J. & Ji, H. Next-generation DNA sequencing. Nature Biotech. 26, 1135-1145 (2008).
-
(2008)
Nature Biotech.
, vol.26
, pp. 1135-1145
-
-
Shendure, J.1
Ji, H.2
-
9
-
-
80051732262
-
Accurate and comprehensive sequencing of personal genomes
-
Ajay, S. S., Parker, S. C., Abaan, H. O., Fajardo, K. V. & Margulies, E. H. Accurate and comprehensive sequencing of personal genomes. Genome Res. 21, 1498-1505 (2011).
-
(2011)
Genome Res.
, vol.21
, pp. 1498-1505
-
-
Ajay, S.S.1
Parker, S.C.2
Abaan, H.O.3
Fajardo, K.V.4
Margulies, E.H.5
-
10
-
-
84975742565
-
A map of human genome variation from population-scale sequencing
-
Genomes Project C.
-
Genomes Project, C. A map of human genome variation from population-scale sequencing. Nature 467, 1061-1073 (2010).
-
(2010)
Nature
, vol.467
, pp. 1061-1073
-
-
-
11
-
-
70749147623
-
The theory of discovering rare variants via DNA sequencing
-
Wendl, M. C. & Wilson, R. K. The theory of discovering rare variants via DNA sequencing. BMC Genomics 10, 485 (2009).
-
(2009)
BMC Genomics
, vol.10
, pp. 485
-
-
Wendl, M.C.1
Wilson, R.K.2
-
12
-
-
84864083351
-
Clinical application of exome sequencing in undiagnosed genetic conditions
-
Need, A. C. et al. Clinical application of exome sequencing in undiagnosed genetic conditions. J. Med. Genet. 49, 353-361 (2012).
-
(2012)
J. Med. Genet.
, vol.49
, pp. 353-361
-
-
Need, A.C.1
-
13
-
-
84864928152
-
Exome sequencing followed by large-scale genotyping fails to identify single rare variants of large effect in idiopathic generalized epilepsy
-
Heinzen, E. L. et al. Exome sequencing followed by large-scale genotyping fails to identify single rare variants of large effect in idiopathic generalized epilepsy. Am. J. Hum. Genet. 91, 293-302 (2012).
-
(2012)
Am. J. Hum. Genet.
, vol.91
, pp. 293-302
-
-
Heinzen, E.L.1
-
14
-
-
84864911042
-
Exome sequencing followed by large-scale genotyping suggests a limited role for moderately rare risk factors of strong effect in schizophrenia
-
Need, A. C. et al. Exome sequencing followed by large-scale genotyping suggests a limited role for moderately rare risk factors of strong effect in schizophrenia. Am. J. Hum. Genet. 91, 303-312 (2012).
-
(2012)
Am. J. Hum. Genet.
, vol.91
, pp. 303-312
-
-
Need, A.C.1
-
15
-
-
84866092268
-
Using ERDS to infer copy-number variants in high-coverage genomes
-
Zhu, M. et al. Using ERDS to infer copy-number variants in high-coverage genomes. Am. J. Hum. Genet. 91, 408-421 (2012).
-
(2012)
Am. J. Hum. Genet.
, vol.91
, pp. 408-421
-
-
Zhu, M.1
-
16
-
-
84865684547
-
De novo mutations in ATP1A3 cause alternating hemiplegia of childhood
-
Heinzen, E. L. et al. De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. Nature Genet. 44, 1030-1034 (2012).
-
(2012)
Nature Genet.
, vol.44
, pp. 1030-1034
-
-
Heinzen, E.L.1
-
17
-
-
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 Genet. 8, e1002944 (2012).
-
(2012)
PLoS Genet.
, vol.8
-
-
Li, B.1
-
18
-
-
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 Rev. Genet. 12, 443-451 (2011).
-
(2011)
Nature Rev. Genet.
, vol.12
, pp. 443-451
-
-
Nielsen, R.1
Paul, J.S.2
Albrechtsen, A.3
Song, Y.S.4
-
19
-
-
70449701942
-
Sense from sequence reads: Methods for alignment and assembly
-
Flicek, P. & Birney, E. Sense from sequence reads: methods for alignment and assembly. Nature Methods 6, S6-S12 (2009).
-
(2009)
Nature Methods
, vol.6
-
-
Flicek, P.1
Birney, E.2
-
20
-
-
79955483667
-
A framework for variation discovery and genotyping using next-generation DNA sequencing data
-
DePristo, M. A. et al. A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nature Genet. 43, 491-498 (2011).
-
(2011)
Nature Genet.
, vol.43
, pp. 491-498
-
-
Depristo, M.A.1
-
21
-
-
79956307251
-
Stampy: A statistical algorithm for sensitive and fast mapping of Illumina sequence reads
-
Lunter, G. & Goodson, M. Stampy: a statistical algorithm for sensitive and fast mapping of Illumina sequence reads. Genome Res. 21, 936-939 (2011).
-
(2011)
Genome Res.
, vol.21
, pp. 936-939
-
-
Lunter, G.1
Goodson, M.2
-
22
-
-
79954553212
-
Improving SNP discovery by base alignment quality
-
Li, H. Improving SNP discovery by base alignment quality. Bioinformatics 27, 1157-1158 (2011).
-
(2011)
Bioinformatics
, vol.27
, pp. 1157-1158
-
-
Li, H.1
-
23
-
-
68849128718
-
Diabetes mellitus in long-term survivors of childhood cancer. Increased risk associated with radiation therapy: A report for the childhood cancer survivor study
-
Meacham, L. R. et al. Diabetes mellitus in long-term survivors of childhood cancer. Increased risk associated with radiation therapy: a report for the childhood cancer survivor study. Arch. Intern. Med. 169, 1381-1388 (2009).
-
(2009)
Arch. Intern. Med.
, vol.169
, pp. 1381-1388
-
-
Meacham, L.R.1
-
24
-
-
77956295988
-
The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
-
McKenna, A. et al. The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res. 20, 1297-1303 (2010).
-
(2010)
Genome Res.
, vol.20
, pp. 1297-1303
-
-
McKenna, A.1
-
25
-
-
84860712363
-
Patterns and rates of exonic de novo mutations in autism spectrum disorders
-
Neale, B. M. et al. Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature 485, 242-245 (2012).
-
(2012)
Nature
, vol.485
, pp. 242-245
-
-
Neale, B.M.1
-
26
-
-
84871949580
-
Genotype calling and haplotyping in parent-offspring trios
-
Chen, W. et al. Genotype calling and haplotyping in parent-offspring trios. Genome Res. 23, 142-151 (2013).
-
(2013)
Genome Res.
, vol.23
, pp. 142-151
-
-
Chen, W.1
-
27
-
-
79959725029
-
Variation in genome-wide mutation rates within and between human families
-
Conrad, D. F. et al. Variation in genome-wide mutation rates within and between human families. Nature Genet. 43, 712-714 (2011).
-
(2011)
Nature Genet.
, vol.43
, pp. 712-714
-
-
Conrad, D.F.1
-
28
-
-
70349556543
-
Personalized copy number and segmental duplication maps using next-generation sequencing
-
Alkan, C. et al. Personalized copy number and segmental duplication maps using next-generation sequencing. Nature Genet. 41, 1061-1067 (2009).
-
(2009)
Nature Genet.
, vol.41
, pp. 1061-1067
-
-
Alkan, C.1
-
29
-
-
77955163329
-
MrsFAST: A cache-oblivious algorithm for short-read mapping
-
Hach, F. et al. mrsFAST: a cache-oblivious algorithm for short-read mapping. Nature Methods 7, 576-577 (2010).
-
(2010)
Nature Methods
, vol.7
, pp. 576-577
-
-
Hach, F.1
-
30
-
-
84860297457
-
De novo gene disruptions in children on the autistic spectrum
-
Iossifov, I. et al. De novo gene disruptions in children on the autistic spectrum. Neuron 74, 285-299 (2012).
-
(2012)
Neuron
, vol.74
, pp. 285-299
-
-
Iossifov, I.1
-
31
-
-
84868686559
-
Diagnostic exome sequencing in persons with severe intellectual disability
-
de Ligt, J. et al. Diagnostic exome sequencing in persons with severe intellectual disability. N. Engl. J. Med. 367, 1921-1929 (2012).
-
(2012)
N. Engl. J. Med.
, vol.367
, pp. 1921-1929
-
-
De Ligt, J.1
-
32
-
-
84868543309
-
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: An exome sequencing study
-
Rauch, A. et al. Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet 380, 1674-1682 (2012).
-
(2012)
Lancet
, vol.380
, pp. 1674-1682
-
-
Rauch, A.1
-
33
-
-
84860780495
-
De novo mutations revealed by whole-exome sequencing are strongly associated with autism
-
Sanders, S. J. et al. De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Nature 485, 237-241 (2012).
-
(2012)
Nature
, vol.485
, pp. 237-241
-
-
Sanders, S.J.1
-
34
-
-
84860741138
-
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
-
O'Roak, B. J. et al. Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature 485, 246-250 (2012).
-
(2012)
Nature
, vol.485
, pp. 246-250
-
-
O'Roak, B.J.1
-
35
-
-
79960405019
-
The variant call format and VCFtools
-
Danecek, P. et al. The variant call format and VCFtools. Bioinformatics 27, 2156-2158 (2011).
-
(2011)
Bioinformatics
, vol.27
, pp. 2156-2158
-
-
Danecek, P.1
-
36
-
-
84867214350
-
Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units
-
Saunders, C. J. et al. Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units. Sci. Transl. Med. 4, 154ra135 2012
-
(2012)
Sci. Transl. Med.
, vol.4
-
-
Saunders, C.J.1
-
37
-
-
78651393550
-
Carrier testing for severe childhood recessive diseases by next-generation sequencing
-
Bell, C. J. et al. Carrier testing for severe childhood recessive diseases by next-generation sequencing. Sci. Transl. Med. 3, 65ra4 (2011).
-
(2011)
Sci. Transl. Med.
, vol.3
-
-
Bell, C.J.1
-
39
-
-
84864430562
-
SIFT web server: Predicting effects of amino acid substitutions on proteins
-
Sim, N. L. et al. SIFT web server: predicting effects of amino acid substitutions on proteins. Nucleic Acids Res. 40, W452-W457 (2012).
-
(2012)
Nucleic Acids Res.
, vol.40
-
-
Sim, N.L.1
-
40
-
-
77951640946
-
A method and server for predicting damaging missense mutations
-
Adzhubei, I. A. et al. A method and server for predicting damaging missense mutations. Nature Methods 7, 248-249 (2010).
-
(2010)
Nature Methods
, vol.7
, pp. 248-249
-
-
Adzhubei, I.A.1
-
41
-
-
22244437614
-
Physicochemical constraint violation by missense substitutions mediates impairment of protein function and disease severity
-
DOI 10.1101/gr.3804205
-
Stone, E. A. & Sidow, A. Physicochemical constraint violation by missense substitutions mediates impairment of protein function and disease severity. Genome Res. 15, 978-986 (2005). (Pubitemid 40994218)
-
(2005)
Genome Research
, vol.15
, Issue.7
, pp. 978-986
-
-
Stone, E.A.1
Sidow, A.2
-
42
-
-
77955590137
-
Human allelic variation: Perspective from protein function, structure, and evolution
-
Jordan, D. M., Ramensky, V. E. & Sunyaev, S. R. Human allelic variation: perspective from protein function, structure, and evolution. Curr. Opin. Struct. Biol. 20, 342-350 (2010).
-
(2010)
Curr. Opin. Struct. Biol.
, vol.20
, pp. 342-350
-
-
Jordan, D.M.1
Ramensky, V.E.2
Sunyaev, S.R.3
-
43
-
-
77955151784
-
MutationTaster evaluates disease-causing potential of sequence alterations
-
Schwarz, J. M., Rodelsperger, C., Schuelke, M. & Seelow, D. MutationTaster evaluates disease-causing potential of sequence alterations. Nature Methods 7, 575-576 (2010).
-
(2010)
Nature Methods
, vol.7
, pp. 575-576
-
-
Schwarz, J.M.1
Rodelsperger, C.2
Schuelke, M.3
Seelow, D.4
-
44
-
-
79957621519
-
Prediction of missense mutation functionality depends on both the algorithm and sequence alignment employed
-
Hicks, S., Wheeler, D. A., Plon, S. E. & Kimmel, M. Prediction of missense mutation functionality depends on both the algorithm and sequence alignment employed. Hum. Mutat. 32, 661-668 (2011).
-
(2011)
Hum. Mutat.
, vol.32
, pp. 661-668
-
-
Hicks, S.1
Wheeler, D.A.2
Plon, S.E.3
Kimmel, M.4
-
45
-
-
80051968181
-
Needles in stacks of needles: Finding disease-causal variants in a wealth of genomic data
-
Cooper, G. M. & Shendure, J. Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data. Nature Rev. Genet. 12, 628-640 (2011).
-
(2011)
Nature Rev. Genet.
, vol.12
, pp. 628-640
-
-
Cooper, G.M.1
Shendure, J.2
-
46
-
-
27144539145
-
Natural selection on protein-coding genes in the human genome
-
DOI 10.1038/nature04240, PII N04240
-
Bustamante, C. D. et al. Natural selection on protein-coding genes in the human genome. Nature 437, 1153-1157 (2005). (Pubitemid 41509352)
-
(2005)
Nature
, vol.437
, Issue.7062
, pp. 1153-1157
-
-
Bustamante, C.D.1
Fledel-Alon, A.2
Williamson, S.3
Nielsen, R.4
Hubisz, M.T.5
Glanowski, S.6
Tanenbaum, D.M.7
White, T.J.8
Sninsky, J.J.9
Hernandez, R.D.10
Civello, D.11
Adams, M.D.12
Cargill, M.13
Clark, A.G.14
-
47
-
-
34547632934
-
Widely distributed noncoding purifying selection in the human genome
-
DOI 10.1073/pnas.0705140104
-
Asthana, S. et al. Widely distributed noncoding purifying selection in the human genome. Proc. Natl Acad. Sci. USA 104, 12410-12415 (2007). (Pubitemid 47206151)
-
(2007)
Proceedings of the National Academy of Sciences of the United States of America
, vol.104
, Issue.30
, pp. 12410-12415
-
-
Asthana, S.1
Noble, W.S.2
Kryukov, G.3
Grant, C.E.4
Sunyaev, S.5
Stamatoyannopoulos, J.A.6
-
48
-
-
0037903275
-
Human Gene Mutation Database (HGMD®): 2003 Update
-
DOI 10.1002/humu.10212
-
Stenson, P. D. et al. Human Gene Mutation Database (HGMD): 2003 update. Hum. Mutat. 21, 577-581 (2003). (Pubitemid 36667346)
-
(2003)
Human Mutation
, vol.21
, Issue.6
, pp. 577-581
-
-
Stenson, P.D.1
Ball, E.V.2
Mort, M.3
Phillips, A.D.4
Shiel, J.A.5
Thomas, N.S.T.6
Abeysinghe, S.7
Krawczak, M.8
Cooper, D.N.9
-
49
-
-
33846014328
-
A strategy to discover genes that carry multi-allelic or mono-allelic risk for common diseases: A cohort allelic sums test (CAST)
-
DOI 10.1016/j.mrfmmm.2006.09.003, PII S0027510706002740
-
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). Mutat. Res. 615, 28-56 (2007). (Pubitemid 46054081)
-
(2007)
Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis
, vol.615
, Issue.1-2
, pp. 28-56
-
-
Morgenthaler, S.1
Thilly, W.G.2
-
50
-
-
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
-
51
-
-
61449168010
-
A groupwise association test for rare mutations using a weighted sum statistic
-
Madsen, B. E. & Browning, S. R. A groupwise association test for rare mutations using a weighted sum statistic. PLoS Genet. 5, e1000384 (2009).
-
(2009)
PLoS Genet.
, vol.5
-
-
Madsen, B.E.1
Browning, S.R.2
-
52
-
-
77953121877
-
Pooled association tests for rare variants in exon-resequencing studies
-
Price, A. L. et al. Pooled association tests for rare variants in exon-resequencing studies. Am. J. Hum. Genet. 86, 832-838 (2010).
-
(2010)
Am. J. Hum. Genet.
, vol.86
, pp. 832-838
-
-
Price, A.L.1
-
53
-
-
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
-
-
Neale, B.M.1
-
54
-
-
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. Am. J. Hum. Genet. 89, 82-93 (2011).
-
(2011)
Am. J. Hum. Genet.
, vol.89
, pp. 82-93
-
-
Wu, M.C.1
-
55
-
-
80052731371
-
A general framework for detecting disease associations with rare variants in sequencing studies
-
Lin, D. Y. & Tang, Z. Z. A general framework for detecting disease associations with rare variants in sequencing studies. Am. J. Hum. Genet. 89, 354-367 (2011).
-
(2011)
Am. J. Hum. Genet.
, vol.89
, pp. 354-367
-
-
Lin, D.Y.1
Tang, Z.Z.2
-
56
-
-
80054728031
-
Comparison of statistical tests for disease association with rare variants
-
Basu, S. & Pan, W. Comparison of statistical tests for disease association with rare variants. Genet. Epidemiol. 35, 606-619 (2011).
-
(2011)
Genet. Epidemiol.
, vol.35
, pp. 606-619
-
-
Basu, S.1
Pan, W.2
-
57
-
-
77958102016
-
Statistical analysis strategies for association studies involving rare variants
-
Bansal, V., Libiger, O., Torkamani, A. & Schork, N. J. Statistical analysis strategies for association studies involving rare variants. Nature Rev. Genet. 11, 773-785 (2010).
-
(2010)
Nature Rev. Genet.
, vol.11
, pp. 773-785
-
-
Bansal, V.1
Libiger, O.2
Torkamani, A.3
Schork, N.J.4
-
58
-
-
80052832184
-
Computational and statistical approaches to analyzing variants identified by exome sequencing
-
Stitziel, N. O., Kiezun, A. & Sunyaev, S. Computational and statistical approaches to analyzing variants identified by exome sequencing. Genome Biol. 12, 227 (2011).
-
(2011)
Genome Biol.
, vol.12
, pp. 227
-
-
Stitziel, N.O.1
Kiezun, A.2
Sunyaev, S.3
-
59
-
-
84861618864
-
Exome sequencing and the genetic basis of complex traits
-
Kiezun, A. et al. Exome sequencing and the genetic basis of complex traits. Nature Genet. 44, 623-630 (2012).
-
(2012)
Nature Genet.
, vol.44
, pp. 623-630
-
-
Kiezun, A.1
-
60
-
-
84859171835
-
The empirical power of rare variant association methods: Results from Sanger sequencing in 1, 998 individuals
-
Ladouceur, M., Dastani, Z., Aulchenko, Y. S., Greenwood, C. M. & Richards, J. B. The empirical power of rare variant association methods: results from Sanger sequencing in 1, 998 individuals. PLoS Genet. 8, e1002496 (2012).
-
(2012)
PLoS Genet.
, vol.8
-
-
Ladouceur, M.1
Dastani, Z.2
Aulchenko, Y.S.3
Greenwood, C.M.4
Richards, J.B.5
-
61
-
-
79953673289
-
A genome-wide comparison of the functional properties of rare and common genetic variants in humans
-
Zhu, Q. et al. A genome-wide comparison of the functional properties of rare and common genetic variants in humans. Am. J. Hum. Genet. 88, 458-468 (2011).
-
(2011)
Am. J. Hum. Genet.
, vol.88
, pp. 458-468
-
-
Zhu, Q.1
-
62
-
-
84863556835
-
Evolution and functional impact of rare coding variation from deep sequencing of human exomes
-
Tennessen, J. A. et al. Evolution and functional impact of rare coding variation from deep sequencing of human exomes. Science 337, 64-69 (2012).
-
(2012)
Science
, vol.337
, pp. 64-69
-
-
Tennessen, J.A.1
-
63
-
-
12344327212
-
Schizophrenia genes, gene expression, and neuropathology: On the matter of their convergence
-
DOI 10.1038/sj.mp.4001558
-
Harrison, P. J. & Weinberger, D. R. Schizophrenia genes, gene expression, and neuropathology: on the matter of their convergence. Mol. Psychiatry 10, 40-68 (2005). (Pubitemid 40139588)
-
(2005)
Molecular Psychiatry
, vol.10
, Issue.1
, pp. 40-68
-
-
Harrison, P.J.1
Weinberger, D.R.2
-
64
-
-
29644442521
-
Psychiatric genetics - The new era: Genetic research and some clinical implications
-
DOI 10.1093/bmb/ldh055
-
Prathikanti, S. & Weinberger, D. R. Psychiatric genetics- the new era: genetic research and some clinical implications. Br. Med. Bull. 73-74, 107-122 (2005). (Pubitemid 43020362)
-
(2005)
British Medical Bulletin
, vol.73-74
, pp. 107-122
-
-
Prathikanti, S.1
Weinberger, D.R.2
-
65
-
-
33751112508
-
Analysis of high-resolution HapMap of DTNBP1 (Dysbindin) suggests no consistency between reported common variant associations and schizophrenia
-
DOI 10.1086/508942
-
Mutsuddi, M. et al. Analysis of high-resolution HapMap of DTNBP1 (Dysbindin) suggests no consistency between reported common variant associations and schizophrenia. Am. J. Hum. Genet. 79, 903-909 (2006). (Pubitemid 44763404)
-
(2006)
American Journal of Human Genetics
, vol.79
, Issue.5
, pp. 903-909
-
-
Mutsuddi, M.1
Morris, D.W.2
Waggoner, S.G.3
Daly, M.J.4
Scolnick, E.M.5
Sklar, P.6
-
66
-
-
61449229353
-
A genome-wide investigation of SNPs and CNVs in schizophrenia
-
Need, A. C. et al. A genome-wide investigation of SNPs and CNVs in schizophrenia. PLoS Genet. 5, e1000373 (2009).
-
(2009)
PLoS Genet.
, vol.5
-
-
Need, A.C.1
-
67
-
-
84869051881
-
In silico cardiac risk assessment in patients with long QT syndrome: Type 1: Clinical predictability of cardiac models
-
Hoefen, R. et al. In silico cardiac risk assessment in patients with long QT syndrome: type 1: clinical predictability of cardiac models. J. Am. Coll. Cardiol 60, 2182-2191 (2012).
-
(2012)
J. Am. Coll. Cardiol
, vol.60
, pp. 2182-2191
-
-
Hoefen, R.1
-
68
-
-
58149252470
-
Cardiac channelopathies studied with the dynamic action potential-clamp technique
-
Berecki, G., Zegers, J. G., Wilders, R. & Van Ginneken, A. C. Cardiac channelopathies studied with the dynamic action potential-clamp technique. Methods Mol. Biol. 403, 233-250 (2007).
-
(2007)
Methods Mol. Biol.
, vol.403
, pp. 233-250
-
-
Berecki, G.1
Zegers, J.G.2
Wilders, R.3
Van Ginneken, A.C.4
-
69
-
-
0028029193
-
Dispersion of ventricular repolarization and arrhythmic cardiac death in coronary artery disease
-
DOI 10.1016/0002-9149(94)90742-0
-
Zareba, W., Moss, A. J. & le Cessie, S. Dispersion of ventricular repolarization and arrhythmic cardiac death in coronary artery disease. Am. J. Cardiol. 74, 550-553 (1994). (Pubitemid 24279934)
-
(1994)
American Journal of Cardiology
, vol.74
, Issue.6
, pp. 550-553
-
-
Zareba, W.1
Moss, A.J.2
Le Cessie, S.3
-
70
-
-
0344492207
-
Relationships between preclinical cardiac electrophysiology, clinical QT interval prolongation and torsade de pointes for a broad range of drugs: Evidence for a provisional safety margin in drug development
-
DOI 10.1016/S0008-6363(02)00846-5
-
Redfern, W. S. et al. Relationships between preclinical cardiac electrophysiology, clinical QT interval prolongation and torsade de pointes for a broad range of drugs: evidence for a provisional safety margin in drug development. Cardiovasc. Res. 58, 32-45 (2003). (Pubitemid 36351620)
-
(2003)
Cardiovascular Research
, vol.58
, Issue.1
, pp. 32-45
-
-
Redfern, W.S.1
Carlsson, L.2
Davis, A.S.3
Lynch, W.G.4
MacKenzie, I.5
Palethorpe, S.6
Siegl, P.K.S.7
Strang, I.8
Sullivan, A.T.9
Wallis, R.10
Camm, A.J.11
Hammond, T.G.12
-
71
-
-
33749506763
-
From in vivo to in silico biology and back
-
DOI 10.1038/nature05127, PII NATURE05127
-
Di Ventura, B., Lemerle, C., Michalodimitrakis, K. & Serrano, L. From in vivo to in silico biology and back. Nature 443, 527-533 (2006). (Pubitemid 44527283)
-
(2006)
Nature
, vol.443
, Issue.7111
, pp. 527-533
-
-
Di Ventura, B.1
Lemerle, C.2
Michalodimitrakis, K.3
Serrano, L.4
-
72
-
-
84876254766
-
Multiple molecular mechanisms for a single GABAA mutation in epilepsy
-
Reid, C. A. et al. Multiple molecular mechanisms for a single GABAA mutation in epilepsy. Neurology 80, 1003-1008 (2013).
-
(2013)
Neurology
, vol.80
, pp. 1003-1008
-
-
Reid, C.A.1
-
73
-
-
84868135886
-
Epistatic interactions between Tgfb1 and genetic loci, Tgfbm2 and Tgfbm3, determine susceptibility to an asthmatic stimulus
-
Freimuth, J. et al. Epistatic interactions between Tgfb1 and genetic loci, Tgfbm2 and Tgfbm3, determine susceptibility to an asthmatic stimulus. Proc. Natl Acad. Sci. USA 109, 18042-18047 (2012).
-
(2012)
Proc. Natl Acad. Sci. USA
, vol.109
, pp. 18042-18047
-
-
Freimuth, J.1
-
74
-
-
84874189972
-
Genotype to phenotype: Lessons from model organisms for human genetics
-
Lehner, B. Genotype to phenotype: lessons from model organisms for human genetics. Nature Rev Genet. 14, 168-178 (2013).
-
(2013)
Nature Rev Genet.
, vol.14
, pp. 168-178
-
-
Lehner, B.1
-
75
-
-
84856112882
-
Diseases in a dish: Modeling human genetic disorders using induced pluripotent cells
-
Tiscornia, G., Vivas, E. L. & Izpisua Belmonte, J. C. Diseases in a dish: modeling human genetic disorders using induced pluripotent cells. Nature Med. 17, 1570-1576 (2011).
-
(2011)
Nature Med.
, vol.17
, pp. 1570-1576
-
-
Tiscornia, G.1
Vivas, E.L.2
Izpisua Belmonte, J.C.3
-
76
-
-
33751547539
-
How many drug targets are there?
-
DOI 10.1038/nrd2199, PII NRD2199
-
Overington, J. P., Al-Lazikani, B. & Hopkins, A. L. How many drug targets are there? Nature Rev. Drug Discov. 5, 993-996 (2006). (Pubitemid 44835126)
-
(2006)
Nature Reviews Drug Discovery
, vol.5
, Issue.12
, pp. 993-996
-
-
Overington, J.P.1
Al-Lazikani, B.2
Hopkins, A.L.3
-
77
-
-
84865790047
-
An integrated encyclopedia of DNA elements in the human genome
-
Consortium, E. P. et al. An integrated encyclopedia of DNA elements in the human genome. Nature 489, 57-74 (2012).
-
(2012)
Nature
, vol.489
, pp. 57-74
-
-
Consortium, E.P.1
-
78
-
-
79960142070
-
SVA: Software for annotating and visualizing sequenced human genomes
-
Ge, D. et al. SVA: software for annotating and visualizing sequenced human genomes. Bioinformatics 27, 1998-2000 (2011).
-
(2011)
Bioinformatics
, vol.27
, pp. 1998-2000
-
-
Ge, D.1
-
79
-
-
67650064594
-
The consensus coding sequence (CCDS) project: Identifying a common protein-coding gene set for the human and mouse genomes
-
Pruitt, K. D. et al. The consensus coding sequence (CCDS) project: identifying a common protein-coding gene set for the human and mouse genomes. Genome Res. 19, 1316-1323 (2009).
-
(2009)
Genome Res.
, vol.19
, pp. 1316-1323
-
-
Pruitt, K.D.1
-
80
-
-
78651237647
-
Identifying a high fraction of the human genome to be under selective constraint using GERP++
-
Davydov, E. V. et al. Identifying a high fraction of the human genome to be under selective constraint using GERP++. PLoS Comput. Biol. 6, e1001025 (2010).
-
(2010)
PLoS Comput. Biol.
, vol.6
-
-
Davydov, E.V.1
-
81
-
-
0026458378
-
Amino acid substitution matrices from protein blocks
-
Henikoff, S. & Henikoff, J. G. Amino acid substitution matrices from protein blocks. Proc. Natl Acad. Sci. USA 89, 10915-10919 (1992).
-
(1992)
Proc. Natl Acad. Sci. USA
, vol.89
, pp. 10915-10919
-
-
Henikoff, S.1
Henikoff, J.G.2
-
82
-
-
84859887632
-
High-throughput analysis of proteinprotein interactions in picoliter-volume droplets using fluorescence polarization
-
Choi, J. W., Kang, D. K., Park, H., deMello, A. J. & Chang, S. I. High-throughput analysis of proteinprotein interactions in picoliter-volume droplets using fluorescence polarization. Anal. Chem. 84, 3849-3854 (2012).
-
(2012)
Anal. Chem.
, vol.84
, pp. 3849-3854
-
-
Choi, J.W.1
Kang, D.K.2
Park, H.3
Demello, A.J.4
Chang, S.I.5
-
83
-
-
81355123249
-
Software for systems biology: From tools to integrated platforms
-
Ghosh, S., Matsuoka, Y., Asai, Y., Hsin, K. Y. & Kitano, H. Software for systems biology: from tools to integrated platforms. Nature Rev. Genet. 12, 821-832 (2011).
-
(2011)
Nature Rev. Genet.
, vol.12
, pp. 821-832
-
-
Ghosh, S.1
Matsuoka, Y.2
Asai, Y.3
Hsin, K.Y.4
Kitano, H.5
-
84
-
-
33645300737
-
From molecule to malady
-
Ashcroft, F. M. From molecule to malady. Nature 440, 440-447 (2006).
-
(2006)
Nature
, vol.440
, pp. 440-447
-
-
Ashcroft, F.M.1
-
85
-
-
53549115579
-
Determining druggability
-
Owens, J. Determining druggability. Nature Rev. Drug Discov. 6, 187 (2007).
-
(2007)
Nature Rev. Drug Discov.
, vol.6
, pp. 187
-
-
Owens, J.1
-
86
-
-
0032706623
-
A general approach to single-nucleotide polymorphism discovery
-
Marth, G. T. et al. A general approach to single-nucleotide polymorphism discovery. Nature Genet. 23, 452-456 (1999).
-
(1999)
Nature Genet.
, vol.23
, pp. 452-456
-
-
Marth, G.T.1
-
87
-
-
63149156282
-
Long tandem repeats as a form of genomic copy number variation: Structure and length polymorphism of a chromosome 5p repeat in control and schizophrenia populations
-
Bruce, H. A. et al. Long tandem repeats as a form of genomic copy number variation: structure and length polymorphism of a chromosome 5p repeat in control and schizophrenia populations. Psychiatr. Genet. 19, 64-71 (2009).
-
(2009)
Psychiatr. Genet.
, vol.19
, pp. 64-71
-
-
Bruce, H.A.1
|