-
1
-
-
0034069495
-
Gene ontology: Tool for the unification of biology. The Gene Ontology Consortium
-
10802651 10.1038/75556 1:CAS:528:DC%2BD3cXjtFSlsbc%3D
-
Ashburner M, Ball CA, Blake JA, Botstein D, Butler H, Cherry JM, Davis AP, Dolinski K, Dwight SS, Eppig JT et al (2000) Gene ontology: tool for the unification of biology. The Gene Ontology Consortium. Nat Genet 25(1):25-29
-
(2000)
Nat Genet
, vol.25
, Issue.1
, pp. 25-29
-
-
Ashburner, M.1
Ball, C.A.2
Blake, J.A.3
Botstein, D.4
Butler, H.5
Cherry, J.M.6
Davis, A.P.7
Dolinski, K.8
Dwight, S.S.9
Eppig, J.T.10
-
2
-
-
84878764878
-
Next generation sequencing of paediatric inflammatory bowel disease patients identifies rare and novel variants in candidate genes
-
doi: 10.1136/gutjnl-2011-301833
-
Christodoulou K, Wiskin AE, Gibson J, Tapper W, Willis C, Afzal NA, Upstill-Goddard R, Holloway JW, Simpson MA, Beattie RM et al. (2012) Next generation sequencing of paediatric inflammatory bowel disease patients identifies rare and novel variants in candidate genes. Gut. doi: 10.1136/gutjnl-2011-301833
-
(2012)
Gut.
-
-
Christodoulou, K.1
Wiskin, A.E.2
Gibson, J.3
Tapper, W.4
Willis, C.5
Afzal, N.A.6
Upstill-Goddard, R.7
Holloway, J.W.8
Ma, S.9
Beattie, R.M.10
-
3
-
-
19344378811
-
Functional bias and spatial organization of genes in mutational hot and cold regions of the human genome
-
10.1371/journal.pbio.0020029 1:CAS:528:DC%2BD2cXhsFCitrg%3D
-
Chuang JH, Li H (2004) Functional bias and spatial organization of genes in mutational hot and cold regions of the human genome. PLoS Biol 2(2):253-263
-
(2004)
PLoS Biol
, vol.2
, Issue.2
, pp. 253-263
-
-
Chuang, J.H.1
Li, H.2
-
4
-
-
0034791035
-
High-resolution haplotype structure in the human genome
-
11586305 10.1038/ng1001-229 1:CAS:528:DC%2BD3MXnsFKns78%3D
-
Daly MJ, Rioux JD, Schaffner SF, Hudson TJ, Lander ES (2001) High-resolution haplotype structure in the human genome. Nat Genet 29:229-232
-
(2001)
Nat Genet
, vol.29
, pp. 229-232
-
-
Daly, M.J.1
Rioux, J.D.2
Schaffner, S.F.3
Hudson, T.J.4
Lander, E.S.5
-
5
-
-
0031466304
-
Microtubule polymerization dynamics
-
9442869 10.1146/annurev.cellbio.13.1.83 1:CAS:528:DyaK1cXisFSksg%3D%3D
-
Desai A, Mitchison TJ (1997) Microtubule polymerization dynamics. Annu Rev Cell Dev Biol 13:83-117
-
(1997)
Annu Rev Cell Dev Biol
, vol.13
, pp. 83-117
-
-
Desai, A.1
Mitchison, T.J.2
-
6
-
-
80855134313
-
Defining the role of essential genes in human disease
-
10.1371/journal.pone.0027368
-
Dickerson JE, Zhu A, Robertson DL, Hentges KE (2011) Defining the role of essential genes in human disease. PLoS ONE 6(11):e273368
-
(2011)
PLoS ONE
, vol.6
, Issue.11
, pp. 273368
-
-
Dickerson, J.E.1
Zhu, A.2
Robertson, D.L.3
Hentges, K.E.4
-
7
-
-
84858296342
-
Detecting false-positive signals in exome sequencing
-
doi: 10.1002/humu.22033
-
Fuentes Fajardo KV, Adams D, NISC Comparative Sequencing Program, Mason CE, Sincan M, Tifft C, Toro C, Boerkoel CF, Gahl W, Markello M (2012) Detecting false-positive signals in exome sequencing. Hum Mutat. doi: 10.1002/humu.22033
-
(2012)
Hum Mutat.
-
-
Fuentes Fajardo, K.V.1
Adams, D.2
Mason, C.E.3
Sincan, M.4
Tifft, C.5
Toro, C.6
Boerkoel, C.F.7
Gahl, W.8
Markello, M.9
-
8
-
-
18444369013
-
The structure of haplotype blocks in the human genome
-
12029063 10.1126/science.1069424 1:CAS:528:DC%2BD38XkvFGhtrc%3D
-
Gabriel SB, Schaffner SF, Nguyen H, Moore JM, Roy J, Blumenstiel B, Higgins J, DeFelice M, Lochner A, Faggart M et al (2002) The structure of haplotype blocks in the human genome. Science 296:2225-2229
-
(2002)
Science
, vol.296
, pp. 2225-2229
-
-
Gabriel, S.B.1
Schaffner, S.F.2
Nguyen, H.3
Moore, J.M.4
Roy, J.5
Blumenstiel, B.6
Higgins, J.7
Defelice, M.8
Lochner, A.9
Faggart, M.10
-
9
-
-
34547140875
-
The human disease network
-
17502601 10.1073/pnas.0701361104 1:CAS:528:DC%2BD2sXmt1Wisbg%3D
-
Goh KI, Cusick ME, Valle D, Childs B, Vidal M, Barabási AL (2007) The human disease network. Proc Natl Acad Sci USA 104(21):8685-8690
-
(2007)
Proc Natl Acad Sci USA
, vol.104
, Issue.21
, pp. 8685-8690
-
-
Goh, K.I.1
Cusick, M.E.2
Valle, D.3
Childs, B.4
Vidal, M.5
Barabási, A.L.6
-
10
-
-
0034795550
-
Intensely punctate meiotic recombination in the class II region of the major histocompatibility complex
-
11586303 10.1038/ng1001-217 1:CAS:528:DC%2BD3MXnsFKnsro%3D
-
Jeffreys AJ, Kauppi L, Neumann R (2001) Intensely punctate meiotic recombination in the class II region of the major histocompatibility complex. Nat Genet 29:217-222
-
(2001)
Nat Genet
, vol.29
, pp. 217-222
-
-
Jeffreys, A.J.1
Kauppi, L.2
Neumann, R.3
-
11
-
-
33847276228
-
Exploiting large scale computing to construct high resolution linkage disequilibrium maps of the human genome
-
17142813 10.1093/bioinformatics/btl615 1:CAS:528:DC%2BD2sXhvFWlt7Y%3D
-
Lau W, Kuo T-Y, Tapper W, Cox S, Collins A (2007) Exploiting large scale computing to construct high resolution linkage disequilibrium maps of the human genome. Bioinformatics 23(4):517-519
-
(2007)
Bioinformatics
, vol.23
, Issue.4
, pp. 517-519
-
-
Lau, W.1
Kuo, T.-Y.2
Tapper, W.3
Cox, S.4
Collins, A.5
-
12
-
-
0036640951
-
Human SNP variability and mutation rate are higher in regions of high recombination
-
12127766 10.1016/S0168-9525(02)02669-0 1:CAS:528:DC%2BD38XlsVOmu7k%3D
-
Lercher MJ, Hurst LD (2002) Human SNP variability and mutation rate are higher in regions of high recombination. Trends Genet 18:337-340
-
(2002)
Trends Genet
, vol.18
, pp. 337-340
-
-
Lercher, M.J.1
Hurst, L.D.2
-
13
-
-
84860147579
-
A comprehensive framework for prioritizing variants in exome sequencing studies of Mendelian diseases
-
22241780 10.1093/nar/gkr1257 1:CAS:528:DC%2BC38Xls1Snu7s%3D
-
Li M-X, Gui H-S, Kwan JSH, Bao S-Y, Sham PC (2012) A comprehensive framework for prioritizing variants in exome sequencing studies of Mendelian diseases. Nucleic Acids Res 40(7):e53
-
(2012)
Nucleic Acids Res
, vol.40
, Issue.7
, pp. 53
-
-
Li, M.-X.1
Gui, H.-S.2
Kwan, J.S.H.3
Bao, S.-Y.4
Sham, P.C.5
-
14
-
-
0037133218
-
The first linkage disequilibrium (LD) maps: Delineation of hot and cold blocks by diplotype analysis
-
11842208 10.1073/pnas.042680999 1:CAS:528:DC%2BD38XitVSrtLg%3D
-
Maniatis N, Collins A, Ku X-F, McCarthy LC, Hewett DR, Tapper W, Ennis S, Ke X, Morton NE (2002) The first linkage disequilibrium (LD) maps: delineation of hot and cold blocks by diplotype analysis. Proc Natl Acad Sci USA 99(4):2228-2233
-
(2002)
Proc Natl Acad Sci USA
, vol.99
, Issue.4
, pp. 2228-2233
-
-
Maniatis, N.1
Collins, A.2
Ku, X.-F.3
McCarthy, L.C.4
Hewett, D.R.5
Tapper, W.6
Ennis, S.7
Ke, X.8
Morton, N.E.9
-
15
-
-
2142773942
-
The fine-scale structure of recombination rate variation in the human genome
-
15105499 10.1126/science.1092500 1:CAS:528:DC%2BD2cXjt1Cku7c%3D
-
McVean GAT, Myers S, Hunt S, Deloukas P, Bentley DR, Donnelly P (2004) The fine-scale structure of recombination rate variation in the human genome. Science 304:581-584
-
(2004)
Science
, vol.304
, pp. 581-584
-
-
McVean, G.A.T.1
Myers, S.2
Hunt, S.3
Deloukas, P.4
Bentley, D.R.5
Donnelly, P.6
-
16
-
-
73349110071
-
Exome sequencing identifies the cause of a Mendelian disorder
-
19915526 10.1038/ng.499 1:CAS:528:DC%2BD1MXhsVWlsbzE
-
Ng SB, Buckingham KJ, Lee C, Bigham AW, Tabor HK, Dent KM, Huff CD, Shannon PT, Jabs EW, Nickerson DA et al (2010) Exome sequencing identifies the cause of a Mendelian disorder. Nat Genet 42:30-35
-
(2010)
Nat Genet
, vol.42
, pp. 30-35
-
-
Ng, S.B.1
Buckingham, K.J.2
Lee, C.3
Bigham, A.W.4
Tabor, H.K.5
Dent, K.M.6
Huff, C.D.7
Shannon, P.T.8
Jabs, E.W.9
Nickerson, D.A.10
-
17
-
-
0036234455
-
Somatic hypermutation of immunoglobulin genes: Merging mechanisms for genetic diversity
-
11983151 10.1016/S0092-8674(02)00706-7 1:CAS:528:DC%2BD38Xjt1eqtbg%3D
-
Papavasiliou FN, Schatz DG (2002) Somatic hypermutation of immunoglobulin genes: merging mechanisms for genetic diversity. Cell 109(Suppl):S35-S44
-
(2002)
Cell
, vol.109
, Issue.SUPPL.
-
-
Papavasiliou, F.N.1
Schatz, D.G.2
-
18
-
-
84857990816
-
A comparative analysis of exome capture
-
21958622 10.1186/gb-2011-12-9-r97 1:CAS:528:DC%2BC3MXhtlyntr7N
-
Parla JS, Iossifov I, Grabill I, Spector MS, Kramer M, McCombie WR (2011) A comparative analysis of exome capture. Genome Biol 12:R97
-
(2011)
Genome Biol
, vol.12
, pp. 97
-
-
Parla, J.S.1
Iossifov, I.2
Grabill, I.3
Spector, M.S.4
Kramer, M.5
McCombie, W.R.6
-
19
-
-
33646375453
-
Magnitude and distribution of linkage disequilibrium in population isolates and implications for genome-wide association studies
-
16582909 10.1038/ng1770 1:CAS:528:DC%2BD28XjvVGksbg%3D
-
Service S, DeYoung J, Karayiorgou M, Louw Roos J, Pretorious H, Bedoya G, Ospina G, Ruiz-Linares A, Macedo A, Almeida Palha J et al (2006) Magnitude and distribution of linkage disequilibrium in population isolates and implications for genome-wide association studies. Nat Genet 38(5):556-560
-
(2006)
Nat Genet
, vol.38
, Issue.5
, pp. 556-560
-
-
Service, S.1
Deyoung, J.2
Karayiorgou, M.3
Louw Roos, J.4
Pretorious, H.5
Bedoya, G.6
Ospina, G.7
Ruiz-Linares, A.8
Macedo, A.9
Almeida Palha, J.10
-
20
-
-
0032862870
-
Primate evolution of an olfactory receptor cluster: Diversification by gene conversion and recent emergence of pseudogenes
-
10512677 10.1006/geno.1999.5900 1:CAS:528:DyaK1MXmtlCrsr8%3D
-
Sharon D, Glusman G, Pilpel Y, Khen M, Gruetzner F, Haaf T, Lancet D (1999) Primate evolution of an olfactory receptor cluster: diversification by gene conversion and recent emergence of pseudogenes. Genomics 61:24-36
-
(1999)
Genomics
, vol.61
, pp. 24-36
-
-
Sharon, D.1
Glusman, G.2
Pilpel, Y.3
Khen, M.4
Gruetzner, F.5
Haaf, T.6
Lancet, D.7
-
21
-
-
27544435335
-
Sequence features in regions of weak and strong linkage disequilibrium
-
16251462 10.1101/gr.4421405 1:CAS:528:DC%2BD2MXhtF2itb7P
-
Smith AV, Thomas DJ, Munro HM, Abecasis GR (2005) Sequence features in regions of weak and strong linkage disequilibrium. Genome Res 15(11):1519-1534
-
(2005)
Genome Res
, vol.15
, Issue.11
, pp. 1519-1534
-
-
Smith, A.V.1
Thomas, D.J.2
Munro, H.M.3
Abecasis, G.R.4
-
22
-
-
80052968197
-
Assessing the patterns of linkage disequilibrium in genic regions of the human genome
-
21824289 10.1111/j.1742-4658.2011.08293.x 1:CAS:528:DC%2BC3MXht1Ons7bE
-
Sun P, Zhang R, Jiang Y, Wang X, Li J, Lv H, Tang G, Guo X, Meng X, Zhang H, Zhang R (2011) Assessing the patterns of linkage disequilibrium in genic regions of the human genome. FEBS J 278(19):3748-3755
-
(2011)
FEBS J
, vol.278
, Issue.19
, pp. 3748-3755
-
-
Sun, P.1
Zhang, R.2
Jiang, Y.3
Wang, X.4
Li, J.5
Lv, H.6
Tang, G.7
Guo, X.8
Meng, X.9
Zhang, H.10
Zhang, R.11
-
23
-
-
23844437267
-
A map of the human genome in linkage disequilibrium units
-
16091463 10.1073/pnas.0505262102 1:CAS:528:DC%2BD2MXpsFGgtbs%3D
-
Tapper W, Collins A, Gibson J, Maniatis N, Ennis S, Morton NE (2005) A map of the human genome in linkage disequilibrium units. Proc Natl Acad Sci USA 102(33):11835-11839
-
(2005)
Proc Natl Acad Sci USA
, vol.102
, Issue.33
, pp. 11835-11839
-
-
Tapper, W.1
Collins, A.2
Gibson, J.3
Maniatis, N.4
Ennis, S.5
Morton, N.E.6
-
24
-
-
79959503826
-
The International HapMap Project
-
The International HapMap Consortium 10.1038/nature02168
-
The International HapMap Consortium (2003) The International HapMap Project. Nature 426:789-796
-
(2003)
Nature
, vol.426
, pp. 789-796
-
-
-
25
-
-
61449172037
-
Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources
-
Wei Haung D, Sherman BT, Lempicki RA (2009) Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources. Nat Protoc 4:44-57
-
(2009)
Nat Protoc
, vol.4
, pp. 44-57
-
-
Wei Haung, D.1
Sherman, B.T.2
Lempicki, R.A.3
-
26
-
-
0037168588
-
Properties of linkage disequilibrium (LD) maps
-
12486239 10.1073/pnas.012672899 1:CAS:528:DC%2BD3sXhvV2lsQ%3D%3D
-
Zhang W, Collins A, Maniatis N, Tapper W, Morton NE (2002) Properties of linkage disequilibrium (LD) maps. Proc Natl Acad Sci USA 99(26):17004-17007
-
(2002)
Proc Natl Acad Sci USA
, vol.99
, Issue.26
, pp. 17004-17007
-
-
Zhang, W.1
Collins, A.2
Maniatis, N.3
Tapper, W.4
Morton, N.E.5
|