-
1
-
-
33748784339
-
Navigating the HapMap
-
Barnes, M.R. (2006) Navigating the HapMap. Brief. Bioinform., 7, 211-224.
-
(2006)
Brief. Bioinform.
, vol.7
, pp. 211-224
-
-
Barnes, M.R.1
-
2
-
-
0034727107
-
An SNP map of the human genome generated by reduced representation shotgun sequencing
-
Altshuler, D., Pollara, V.J., Cowles, C.R., Van Etten, W.J., Baldwin, J., Linton, L. and Lander, E.S. (2000) An SNP map of the human genome generated by reduced representation shotgun sequencing. Nature, 407, 513-516.
-
(2000)
Nature
, vol.407
, pp. 513-516
-
-
Altshuler, D.1
Pollara, V.J.2
Cowles, C.R.3
Van Etten, W.J.4
Baldwin, J.5
Linton, L.6
Lander, E.S.7
-
3
-
-
33751329250
-
Global variation in copy number in the human genome
-
Redon, R., Ishikawa, S., Fitch, K.R., Feuk, L., Perry, G.H., Andrews, T.D., et al. (2006) Global variation in copy number in the human genome. Nature, 444, 444-454.
-
(2006)
Nature
, vol.444
, pp. 444-454
-
-
Redon, R.1
Ishikawa, S.2
Fitch, K.R.3
Feuk, L.4
Perry, G.H.5
Andrews, T.D.6
-
4
-
-
79959524146
-
A haplotype map of the human genome
-
The International HapMap Consortium
-
The International HapMap Consortium (2005) A haplotype map of the human genome. Nature, 437, 1299-1320.
-
(2005)
Nature
, vol.437
, pp. 1299-1320
-
-
-
5
-
-
33846070952
-
Trdb-the tandem repeats database
-
Gelfand, Y., Rodriguez, A. and Benson, G. (2007) TRDB-the Tandem Repeats Database. Nucleic Acids Res., 35, D80-D87.
-
(2007)
Nucleic Acids Res.
, vol.35
-
-
Gelfand, Y.1
Rodriguez, A.2
Benson, G.3
-
6
-
-
17944367325
-
A polymorphic genomic duplication on human chromosome 15 is a susceptibility factor for panic and phobic disorders
-
Gratacos, M., Nadal, M., Martin-Santos, R., Pujana, M.A., Gago, J., Peral, B., et al. (2001) A polymorphic genomic duplication on human chromosome 15 is a susceptibility factor for panic and phobic disorders. Cell, 106, 367-379.
-
(2001)
Cell
, vol.106
, pp. 367-379
-
-
Gratacos, M.1
Nadal, M.2
Martin-Santos, R.3
Pujana, M.A.4
Gago, J.5
Peral, B.6
-
7
-
-
33751345434
-
Genome-wide detection of human copy number variations using high-density DNA oligo-nucleotide arrays
-
Komura, D., Shen, F., Ishikawa, S., Fitch, K.R., Chen, W., Zhang, J., et al. (2006) Genome-wide detection of human copy number variations using high-density DNA oligo-nucleotide arrays. Genome Res., 16, 1575-1584.
-
(2006)
Genome Res.
, vol.16
, pp. 1575-1584
-
-
Komura, D.1
Shen, F.2
Ishikawa, S.3
Fitch, K.R.4
Chen, W.5
Zhang, J.6
-
8
-
-
52949141845
-
Integrated detection and population-genetic analysis of SNPs and copy number variation
-
McCarroll, S.A., Kuruvilla, F.G., Korn, J.M., Cawley, S., Nemesh, J., Wysoker, A., et al. (2008) Integrated detection and population-genetic analysis of SNPs and copy number variation. Nat.Genet., 40, 1166-1174.
-
(2008)
Nat.Genet.
, vol.40
, pp. 1166-1174
-
-
McCarroll, S.A.1
Kuruvilla, F.G.2
Korn, J.M.3
Cawley, S.4
Nemesh, J.5
Wysoker, A.6
-
9
-
-
33750953227
-
Whole-genome resequencing
-
Bentley, D.R. (2006) Whole-genome resequencing. Curr. Opin. Genet. Dev., 16, 545-552.
-
(2006)
Curr. Opin. Genet. Dev.
, vol.16
, pp. 545-552
-
-
Bentley, D.R.1
-
10
-
-
0029655724
-
Molecular genetic analysis in mild hyperhomocysteinemia: A common mutation in the methylenetetrahydrofolate reductase gene is a genetic risk factor for cardiovascular disease
-
Kluijtmans, L.A., van den Heuvel, L.P., Boers, G.H., Frosst, P., Stevens, E.M., van Oost, B.A., et al. (1996) Molecular genetic analysis in mild hyperhomocysteinemia: a common mutation in the methylenetetrahydrofolate reductase gene is a genetic risk factor for cardiovascular disease. Am. J. Hum. Genet., 58, 35-41.
-
(1996)
Am. J. Hum. Genet.
, vol.58
, pp. 35-41
-
-
Kluijtmans, L.A.1
Van Den Heuvel, L.P.2
Boers, G.H.3
Frosst, P.4
Stevens, E.M.5
Van Oost, B.A.6
-
11
-
-
0035878629
-
The frequency of founder mutations in the BRCA1, BRCA2, and APC genes in Australian Ashkenazi Jews: Implications for the generality of U.S. population data
-
Bahar, A.Y., Taylor, P.J., Andrews, L., Proos, A., Burnett, L., Tucker, K., et al. (2001) The frequency of founder mutations in the BRCA1, BRCA2, and APC genes in Australian Ashkenazi Jews: implications for the generality of U.S. population data. Cancer, 92, 440-445.
-
(2001)
Cancer
, vol.92
, pp. 440-445
-
-
Bahar, A.Y.1
Taylor, P.J.2
Andrews, L.3
Proos, A.4
Burnett, L.5
Tucker, K.6
-
12
-
-
18044403553
-
Population screening of F508del (DeltaF508), the most frequent mutation in the CFTR gene associated with cystic fbrosis in Argentina
-
Roque, M., Godoy, C.P., Castellanos, M., Pusiol, E. and Mayorga, L.S. (2001) Population screening of F508del (DeltaF508), the most frequent mutation in the CFTR gene associated with cystic fbrosis in Argentina. Hum. Mutat., 18, 167.
-
(2001)
Hum. Mutat.
, vol.18
, pp. 167
-
-
Roque, M.1
Godoy, C.P.2
Castellanos, M.3
Pusiol, E.4
Mayorga, L.S.5
-
13
-
-
57549098807
-
The catalogue of somatic mutations in cancer (COSMIC)
-
Chapter 10, Unit
-
Forbes, S.A., Bhamra, G., Bamford, S., Dawson, E., Kok, C., Clements, J., et al. (2008) The catalogue of somatic mutations in cancer (COSMIC). Curr. Protoc. Hum. Genet., Chapter 10, Unit.
-
(2008)
Curr. Protoc. Hum. Genet
-
-
Forbes, S.A.1
Bhamra, G.2
Bamford, S.3
Dawson, E.4
Kok, C.5
Clements, J.6
-
14
-
-
58149189856
-
McKusick's online Mendelian inheritance in man (OMIM)
-
Amberger, J., Bocchini, C.A., Scott, A.F. and Hamosh, A. (2009) McKusick's online Mendelian inheritance in man (OMIM). Nucleic Acids Res., 37, D793-D796.
-
(2009)
Nucleic Acids Res.
, vol.37
-
-
Amberger, J.1
Bocchini, C.A.2
Scott, A.F.3
Hamosh, A.4
-
15
-
-
0035474084
-
The birth and death of human single-nucleotide polymorphisms: New experimental evidence and implications for human history and medicine
-
Miller, R.D. and Kwok, P.Y. (2001) The birth and death of human single-nucleotide polymorphisms: new experimental evidence and implications for human history and medicine. Hum. Mol. Genet., 10, 2195-2198.
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 2195-2198
-
-
Miller, R.D.1
Kwok, P.Y.2
-
16
-
-
0023853921
-
The CpG dinucleotide and human genetic disease
-
Cooper, D.N. and Youssoufan, H. (1988) The CpG dinucleotide and human genetic disease. Hum. Genet., 78, 151-155.
-
(1988)
Hum. Genet.
, vol.78
, pp. 151-155
-
-
Cooper, D.N.1
Youssoufan, H.2
-
17
-
-
0035837267
-
Linkage disequilibrium in the human genome
-
Reich, D.E., Cargill, M., Bolk, S., Ireland, J., Sabeti, P.C., Richter, D.J., et al. (2001) Linkage disequilibrium in the human genome. Nature, 411, 199-204.
-
(2001)
Nature
, vol.411
, pp. 199-204
-
-
Reich, D.E.1
Cargill, M.2
Bolk, S.3
Ireland, J.4
Sabeti, P.C.5
Richter, D.J.6
-
18
-
-
41149167691
-
Single nucleotide polymorphisms (SNPs) are highly conserved in rhesus (Macaca mulatta) and cynomolgus (Macaca fascicu-laris) macaques
-
Street, S.L., Kyes, R.C., Grant, R. and Ferguson, B. (2007) Single nucleotide polymorphisms (SNPs) are highly conserved in rhesus (Macaca mulatta) and cynomolgus (Macaca fascicu-laris) macaques. BMC Genomics, 8, 480.
-
(2007)
BMC Genomics
, vol.8
, pp. 480
-
-
Street, S.L.1
Kyes, R.C.2
Grant, R.3
Ferguson, B.4
-
19
-
-
61349141884
-
Cryptic variation in the human mutation rate
-
Hodgkinson, A., Ladoukakis, E. and Eyre-Walker, A. (2009) Cryptic variation in the human mutation rate. PLoS Biol., 7, e1000027.
-
(2009)
PLoS Biol.
, vol.7
-
-
Hodgkinson, A.1
Ladoukakis, E.2
Eyre-Walker, A.3
-
20
-
-
0035140241
-
Regions of low single-nucleotide polymorphism incidence in human and orangutan xq: Deserts and recent coalescences
-
Miller, R.D., Taillon-Miller, P. and Kwok, P.Y. (2001) Regions of low single-nucleotide polymorphism incidence in human and orangutan xq: deserts and recent coalescences. Genomics, 71, 78-88.
-
(2001)
Genomics
, vol.71
, pp. 78-88
-
-
Miller, R.D.1
Taillon-Miller, P.2
Kwok, P.Y.3
-
21
-
-
0035173378
-
DbSNP: The NCBI database of genetic variation
-
Sherry, S.T., Ward, M.H., Kholodov, M., Baker, J., Phan, L., Smigielski, E.M. and Sirotkin, K. (2001) dbSNP: the NCBI database of genetic variation. Nucleic Acids Res., 29, 308-311.
-
(2001)
Nucleic Acids Res.
, vol.29
, pp. 308-311
-
-
Sherry, S.T.1
Ward, M.H.2
Kholodov, M.3
Baker, J.4
Phan, L.5
Smigielski, E.M.6
Sirotkin, K.7
-
22
-
-
34547692622
-
Trinucleotide repeat disorders
-
Orr, H.T. and Zoghbi, H.Y. (2007) Trinucleotide repeat disorders. Annu. Rev. Neurosci., 30, 575-621.
-
(2007)
Annu. Rev. Neurosci.
, vol.30
, pp. 575-621
-
-
Orr, H.T.1
Zoghbi, H.Y.2
-
23
-
-
0027200763
-
Susceptibility to insulin dependent diabetes mellitus maps to a 4.1 kb segment of DNA spanning the insulin gene and associated VNTR
-
Lucassen, A.M., Julier, C., Beressi, J.P., Boitard, C., Froguel, P., Lathrop, M. and Bell, J.I. (1993) Susceptibility to insulin dependent diabetes mellitus maps to a 4.1 kb segment of DNA spanning the insulin gene and associated VNTR. Nat. Genet., 4, 305-310.
-
(1993)
Nat. Genet.
, vol.4
, pp. 305-310
-
-
Lucassen, A.M.1
Julier, C.2
Beressi, J.P.3
Boitard, C.4
Froguel, P.5
Lathrop, M.6
Bell, J.I.7
-
24
-
-
0033555906
-
Tandem repeats fnder: A program to analyze DNA sequences
-
Benson, G. (1999) Tandem repeats fnder: a program to analyze DNA sequences. Nucleic Acids Res., 27, 573-580.
-
(1999)
Nucleic Acids Res.
, vol.27
, pp. 573-580
-
-
Benson, G.1
-
25
-
-
84934435525
-
Asking complex questions of the genome without programming
-
Woollard, P. (2009) Asking complex questions of the genome without programming. Methods Mol. Biol.
-
(2009)
Methods Mol. Biol
-
-
Woollard, P.1
-
26
-
-
33847651684
-
Exploring DNA structure with Cn3D
-
Porter, S.G., Day, J., McCarty, R.E., Shearn, A., Shingles, R., Fletcher, L., Murphy, S. and Pearlman, R. (2007) Exploring DNA structure with Cn3D. CBE Life Sci. Educ., 6, 65-73.
-
(2007)
CBE Life Sci. Educ.
, vol.6
, pp. 65-73
-
-
Porter, S.G.1
Day, J.2
McCarty, R.E.3
Shearn, A.4
Shingles, R.5
Fletcher, L.6
Murphy, S.7
Pearlman, R.8
-
27
-
-
58149178565
-
The UCSC Genome Browser Database: Update 2009
-
Kuhn, R.M., Karolchik, D., Zweig, A.S., Wang, T., Smith, K.E., Rosenbloom, K.R., et al. (2009) The UCSC Genome Browser Database: update 2009. Nucleic Acids Res., 37, D755-D761.
-
(2009)
Nucleic Acids Res.
, vol.37
-
-
Kuhn, R.M.1
Karolchik, D.2
Zweig, A.S.3
Wang, T.4
Smith, K.E.5
Rosenbloom, K.R.6
-
28
-
-
84934444247
-
Bioinformatic tools for identifying disease gene and SNP candidates
-
Mooney, S., Krishnan, V. and Evani, U.S. (2009) Bioinformatic tools for identifying disease gene and SNP candidates. Methods Mol. Biol.
-
(2009)
Methods Mol. Biol
-
-
Mooney, S.1
Krishnan, V.2
Evani, U.S.3
-
29
-
-
16044373004
-
Resistance to HIV-1 infection in caucasian individuals bearing mutant alleles of the CCR-5 chemokine receptor gene
-
Samson, M., Libert, F., Doranz, B.J., Rucker, J., Liesnard, C., Farber, C.M.S. et al. (1996) Resistance to HIV-1 infection in caucasian individuals bearing mutant alleles of the CCR-5 chemokine receptor gene. Nature, 382, 722-725.
-
(1996)
Nature
, vol.382
, pp. 722-725
-
-
Samson, M.1
Libert, F.2
Doranz, B.J.3
Rucker, J.4
Liesnard, C.5
Farber, C.M.S.6
|