-
1
-
-
85030508077
-
-
Consensus CDS (CCDS) Project
-
Consensus CDS (CCDS) Project, http://www.ncbi.nlm.nih.gov/CCDS/
-
-
-
-
2
-
-
85030522709
-
-
dbSNP, http://www.ncbi.nlm.nih.gov/SNP/
-
dbSNP, http://www.ncbi.nlm.nih.gov/SNP/
-
-
-
-
4
-
-
85030509071
-
-
JSNP, http://snp.ims.u-tokyo.ac.jp/ (for database of Japanese SNPs)
-
JSNP, http://snp.ims.u-tokyo.ac.jp/ (for database of Japanese SNPs)
-
-
-
-
7
-
-
0037146578
-
Finding genes that underlie complex traits
-
Glazier AM, Nadeau JH, Aitman TJ (2002) Finding genes that underlie complex traits. Science 298:2345-2349
-
(2002)
Science
, vol.298
, pp. 2345-2349
-
-
Glazier, A.M.1
Nadeau, J.H.2
Aitman, T.J.3
-
8
-
-
0037373275
-
Discovering genotypes underlying human phenotypes: Past successes for Mendelian disease, future approaches for complex disease
-
Botstein D, Risch N (2003) Discovering genotypes underlying human phenotypes: past successes for Mendelian disease, future approaches for complex disease. Nat Genet 33:228-237
-
(2003)
Nat Genet
, vol.33
, pp. 228-237
-
-
Botstein, D.1
Risch, N.2
-
10
-
-
0035820667
-
Patterns of age-specific means and genetic variances of mortality rates predicted by the mutation-accumulation theory of ageing
-
Charlesworth B (2001) Patterns of age-specific means and genetic variances of mortality rates predicted by the mutation-accumulation theory of ageing. J Theor Biol 210:47-65
-
(2001)
J Theor Biol
, vol.210
, pp. 47-65
-
-
Charlesworth, B.1
-
12
-
-
26444571758
-
An evolutionary framework for common diseases: The ancestral-susceptibility model
-
Di Rienzo A, Hudson RR (2005) An evolutionary framework for common diseases: the ancestral-susceptibility model. Trends Genet 21:596-601
-
(2005)
Trends Genet
, vol.21
, pp. 596-601
-
-
Di Rienzo, A.1
Hudson, R.R.2
-
13
-
-
70349566593
-
Diabetes mellitus: A "thrifty" genotype rendered detrimental by "progress"?
-
Neel JV (1962) Diabetes mellitus: a "thrifty" genotype rendered detrimental by "progress"? Am J Hum Genet 14:353-362
-
(1962)
Am J Hum Genet
, vol.14
, pp. 353-362
-
-
Neel, J.V.1
-
14
-
-
33646484211
-
Balancing selection and its effects on sequences in nearby genome regions
-
Charlesworth D (2006) Balancing selection and its effects on sequences in nearby genome regions. PLoS Genet 2:e64
-
(2006)
PLoS Genet
, vol.2
-
-
Charlesworth, D.1
-
15
-
-
0004053611
-
-
3rd ed. John Wiley & Sons, New York, pp
-
Voet D, Voet JG (2004) Biochemistry, 3rd ed. John Wiley & Sons, New York, pp 183-185
-
(2004)
Biochemistry
, pp. 183-185
-
-
Voet, D.1
Voet, J.G.2
-
16
-
-
0000055057
-
Pleiotropy, natural selection and the evolution of senescence
-
Williams GC (1957) Pleiotropy, natural selection and the evolution of senescence. Evolution 11:398-411
-
(1957)
Evolution
, vol.11
, pp. 398-411
-
-
Williams, G.C.1
-
17
-
-
0013802404
-
A stochastic model concerning the maintenance of genetic variability in quantitative characters
-
Kimura M (1965) A stochastic model concerning the maintenance of genetic variability in quantitative characters. Proc Natl Acad Sci USA 54:731-736
-
(1965)
Proc Natl Acad Sci USA
, vol.54
, pp. 731-736
-
-
Kimura, M.1
-
18
-
-
0016814243
-
The maintenance of genetic variability by mutation in a polygenic character with linked loci
-
Lande R (1975) The maintenance of genetic variability by mutation in a polygenic character with linked loci. Genet Res 26:221-235
-
(1975)
Genet Res
, vol.26
, pp. 221-235
-
-
Lande, R.1
-
19
-
-
0021419667
-
Heritable genetic variation via mutation-selection balance: Lerch's Zeta meets the abdominal bristle
-
Turelli M (1984) Heritable genetic variation via mutation-selection balance: Lerch's Zeta meets the abdominal bristle. Theor Popul Biol 25:138-193
-
(1984)
Theor Popul Biol
, vol.25
, pp. 138-193
-
-
Turelli, M.1
-
20
-
-
1642389513
-
Influence of dominance, leptokurtosis and pleiotropy of deleterious mutations on quantitative genetic variation at mutation-selection balance
-
Zhang XS, Wang J, Hill WG (2004) Influence of dominance, leptokurtosis and pleiotropy of deleterious mutations on quantitative genetic variation at mutation-selection balance. Genetics 166:597-610
-
(2004)
Genetics
, vol.166
, pp. 597-610
-
-
Zhang, X.S.1
Wang, J.2
Hill, W.G.3
-
21
-
-
23944478363
-
Genetic variability under mutation selection balance
-
Zhang XS, Hill WG (2005) Genetic variability under mutation selection balance. Trends Ecol Evol 20:468-470
-
(2005)
Trends Ecol Evol
, vol.20
, pp. 468-470
-
-
Zhang, X.S.1
Hill, W.G.2
-
22
-
-
33845516667
-
Resolving the paradox of common, harmful, heritable mental disorders: Which evolutionary genetic models work best?
-
Keller MC, Miller G (2006) Resolving the paradox of common, harmful, heritable mental disorders: which evolutionary genetic models work best? Behav Brain Sci 29:385-404
-
(2006)
Behav Brain Sci
, vol.29
, pp. 385-404
-
-
Keller, M.C.1
Miller, G.2
-
23
-
-
0034969437
-
Are rare variants responsible for susceptibility to complex diseases?
-
Pritchard JK (2001) Are rare variants responsible for susceptibility to complex diseases? Am J Hum Genet 69:124-137
-
(2001)
Am J Hum Genet
, vol.69
, pp. 124-137
-
-
Pritchard, J.K.1
-
24
-
-
0036799545
-
The allelic architecture of human disease genes: Common disease-common variant or not?
-
Pritchard JK, Cox NJ (2002) The allelic architecture of human disease genes: common disease-common variant or not? Hum Mol Genet 11:2417-2423
-
(2002)
Hum Mol Genet
, vol.11
, pp. 2417-2423
-
-
Pritchard, J.K.1
Cox, N.J.2
-
25
-
-
0035451780
-
On the allelic spectrum of human disease
-
Reich DE, Lander ES (2001) On the allelic spectrum of human disease. Trends Genet 17:502-510
-
(2001)
Trends Genet
, vol.17
, pp. 502-510
-
-
Reich, D.E.1
Lander, E.S.2
-
26
-
-
0037903275
-
Human Gene Mutation Database (HGMD): 2003 update
-
Stenson PD, Ball EV, Mort M, Phillips AD, Shiel JA, Thomas NS, Abeysinghe S, Krawczak M, Cooper DN (2003) Human Gene Mutation Database (HGMD): 2003 update. Hum Mutat 21:577-581
-
(2003)
Hum Mutat
, vol.21
, 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.6
Abeysinghe, S.7
Krawczak, M.8
Cooper, D.N.9
-
27
-
-
0037224621
-
Direct estimates of human per nucleotide mutation rates at 20 loci causing Mendelian diseases
-
Kondrashov AS (2003) Direct estimates of human per nucleotide mutation rates at 20 loci causing Mendelian diseases. Hum Mutat 21:12-27
-
(2003)
Hum Mutat
, vol.21
, pp. 12-27
-
-
Kondrashov, A.S.1
-
28
-
-
34147154100
-
Medical sequencing at the extremes of human body mass
-
in this issue
-
Ahituv N, Kavaslar N, Schackwitz W, Ustaszewska A, Martin J, Hébert S, Doelle H, Ersoy B, Kryukov G, Schmidt S, et al (2007) Medical sequencing at the extremes of human body mass. Am J Hum Genet 80:XXX-XXX (in this issue)
-
(2007)
Am J Hum Genet
, vol.80
-
-
Ahituv, N.1
Kavaslar, N.2
Schackwitz, W.3
Ustaszewska, A.4
Martin, J.5
Hébert, S.6
Doelle, H.7
Ersoy, B.8
Kryukov, G.9
Schmidt, S.10
-
29
-
-
6344267228
-
Pattern of sequence variation across 213 environmental response genes
-
Livingston RJ, von Niederhausern A, Jegga AG, Crawford DC, Carlson CS, Rieder MJ, Gowrisankar S, Aronow BJ, Weiss RB, Nickerson DA (2004) Pattern of sequence variation across 213 environmental response genes. Genome Res 14:1821-1831
-
(2004)
Genome Res
, vol.14
, pp. 1821-1831
-
-
Livingston, R.J.1
von Niederhausern, A.2
Jegga, A.G.3
Crawford, D.C.4
Carlson, C.S.5
Rieder, M.J.6
Gowrisankar, S.7
Aronow, B.J.8
Weiss, R.B.9
Nickerson, D.A.10
-
30
-
-
0036087166
-
JSNP: A database of common gene variations in the Japanese population
-
Hirakawa M, Tanaka T, Hashimoto Y, Kuroda M, Takagi T, Nakamura Y (2002) JSNP: a database of common gene variations in the Japanese population. Nucleic Acids Res 30:158-162
-
(2002)
Nucleic Acids Res
, vol.30
, pp. 158-162
-
-
Hirakawa, M.1
Tanaka, T.2
Hashimoto, Y.3
Kuroda, M.4
Takagi, T.5
Nakamura, Y.6
-
31
-
-
0035173378
-
dbSNP: The NCBI database of genetic variation
-
Sherry ST, Ward MH, Kholodov M, Baker J, Phan L, Smigielski EM, 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
-
32
-
-
33750959091
-
Higher intensity of purifying selection on >90% of the human genes revealed by the intrinsic replacement mutation rates
-
Subramanian S, Kumar S (2006) Higher intensity of purifying selection on >90% of the human genes revealed by the intrinsic replacement mutation rates. Mol Biol Evol 23:2283-2287
-
(2006)
Mol Biol Evol
, vol.23
, pp. 2283-2287
-
-
Subramanian, S.1
Kumar, S.2
-
33
-
-
0032231701
-
Neighboring-nucleotide effects on the rates of germ-line single-base-pair substitution in human genes
-
Krawczak M, Ball EV, Cooper DN (1998) Neighboring-nucleotide effects on the rates of germ-line single-base-pair substitution in human genes. Am J Hum Genet 63:474-488
-
(1998)
Am J Hum Genet
, vol.63
, pp. 474-488
-
-
Krawczak, M.1
Ball, E.V.2
Cooper, D.N.3
-
34
-
-
85030507158
-
-
Li WH (1997) Molecular evolution. Sinauer Associates, Sunderland, MA, pp 80-84
-
Li WH (1997) Molecular evolution. Sinauer Associates, Sunderland, MA, pp 80-84
-
-
-
-
35
-
-
7444260846
-
The ENCODE (ENCyclopedia Of DNA Elements) Project
-
ENCODE Project Consortium
-
ENCODE Project Consortium (2004) The ENCODE (ENCyclopedia Of DNA Elements) Project. Science 306:636-640
-
(2004)
Science
, vol.306
, pp. 636-640
-
-
-
36
-
-
1542748076
-
-
Blanchette M, Kent WJ, Riemer C, Elnitski L, Smit AF, Roskin KM, Baertsch R, Rosenbloom K, Clawson H, Green ED, et al (2004) Aligning multiple genomic sequences with the threaded blockset aligner. Genome Res 14:708-715
-
Blanchette M, Kent WJ, Riemer C, Elnitski L, Smit AF, Roskin KM, Baertsch R, Rosenbloom K, Clawson H, Green ED, et al (2004) Aligning multiple genomic sequences with the threaded blockset aligner. Genome Res 14:708-715
-
-
-
-
37
-
-
1542510106
-
Phylogenetic estimation of context-dependent substitution rates by maximum likelihood
-
Siepel A, Haussler D (2004) Phylogenetic estimation of context-dependent substitution rates by maximum likelihood. Mol Biol Evol 21:468-488
-
(2004)
Mol Biol Evol
, vol.21
, pp. 468-488
-
-
Siepel, A.1
Haussler, D.2
-
38
-
-
4644300141
-
Bayesian Markov chain Monte Carlo sequence analysis reveals varying neutral substitution patterns in mammalian evolution
-
Hwang DG, Green P (2004) Bayesian Markov chain Monte Carlo sequence analysis reveals varying neutral substitution patterns in mammalian evolution. Proc Natl Acad Sci USA 101:13994-14001
-
(2004)
Proc Natl Acad Sci USA
, vol.101
, pp. 13994-14001
-
-
Hwang, D.G.1
Green, P.2
-
39
-
-
19544383635
-
Identification and measurement of neighbor-dependent nucleotide substitution processes
-
Arndt PF, Hwa T (2005) Identification and measurement of neighbor-dependent nucleotide substitution processes. Bioinformatics 21:2322-2328
-
(2005)
Bioinformatics
, vol.21
, pp. 2322-2328
-
-
Arndt, P.F.1
Hwa, T.2
-
40
-
-
27744541698
-
Distribution of the strength of selection against amino acid replacements in human proteins
-
Yampolsky LY, Kondrashov FA, Kondrashov AS (2005) Distribution of the strength of selection against amino acid replacements in human proteins. Hum Mol Genet 14:3191-3201
-
(2005)
Hum Mol Genet
, vol.14
, pp. 3191-3201
-
-
Yampolsky, L.Y.1
Kondrashov, F.A.2
Kondrashov, A.S.3
-
41
-
-
0038104863
-
Selection on human genes as revealed by comparisons to chimpanzee cDNA
-
Hellmann I, Zollner S, Enard W, Ebersberger I, Nickel B, Paabo S (2003) Selection on human genes as revealed by comparisons to chimpanzee cDNA. Genome Res 13:831-837
-
(2003)
Genome Res
, vol.13
, pp. 831-837
-
-
Hellmann, I.1
Zollner, S.2
Enard, W.3
Ebersberger, I.4
Nickel, B.5
Paabo, S.6
-
42
-
-
30744432134
-
Evidence for selection on synonymous mutations affecting stability of mRNA secondary structure in mammals
-
Chamary JV, Hurst LD (2005) Evidence for selection on synonymous mutations affecting stability of mRNA secondary structure in mammals. Genome Biol 6:R75
-
(2005)
Genome Biol
, vol.6
-
-
Chamary, J.V.1
Hurst, L.D.2
-
43
-
-
30744469841
-
Evidence for purifying selection against synonymous mutations in mammalian exonic splicing enhancers
-
Parmley JL, Chamary JV, Hurst LD (2006) Evidence for purifying selection against synonymous mutations in mammalian exonic splicing enhancers. Mol Biol Evol 23:301-309
-
(2006)
Mol Biol Evol
, vol.23
, pp. 301-309
-
-
Parmley, J.L.1
Chamary, J.V.2
Hurst, L.D.3
-
44
-
-
31144465926
-
Hearing silence: Non-neutral evolution at synonymous sites in mammals
-
Chamary JV, Parmley JL, Hurst LD (2006) Hearing silence: non-neutral evolution at synonymous sites in mammals. Nat Rev Genet 7:98-108
-
(2006)
Nat Rev Genet
, vol.7
, pp. 98-108
-
-
Chamary, J.V.1
Parmley, J.L.2
Hurst, L.D.3
-
45
-
-
24344500211
-
Initial sequence of the chimpanzee genome and comparison with the human genome
-
Chimpanzee Sequencing and Analysis Consortium
-
Chimpanzee Sequencing and Analysis Consortium (2005) Initial sequence of the chimpanzee genome and comparison with the human genome. Nature 437:69-87
-
(2005)
Nature
, vol.437
, pp. 69-87
-
-
-
46
-
-
34147185777
-
Infinite site model
-
Cambridge University Press, Cambridge, pp
-
Kimura M (1983) Infinite site model. In: The neutral theory of molecular evolution. Cambridge University Press, Cambridge, pp 236-240
-
(1983)
The neutral theory of molecular evolution
, pp. 236-240
-
-
Kimura, M.1
-
47
-
-
1642282195
-
The allele frequency spectrum in genome-wide human variation data reveals signals of differential demographic history in three large world populations
-
Marth GT, Czabarka E, Murvai J, Sherry ST (2004) The allele frequency spectrum in genome-wide human variation data reveals signals of differential demographic history in three large world populations. Genetics 166:351-372
-
(2004)
Genetics
, vol.166
, pp. 351-372
-
-
Marth, G.T.1
Czabarka, E.2
Murvai, J.3
Sherry, S.T.4
-
48
-
-
20344380699
-
Simultaneous inference of selection and population growth from patterns of variation in the human genome
-
Williamson SH, Hernandez R, Fledel-Alon A, Zhu L, Nielsen R, Bustamante CD (2005) Simultaneous inference of selection and population growth from patterns of variation in the human genome. Proc Natl Acad Sci USA 102:7882-7887
-
(2005)
Proc Natl Acad Sci USA
, vol.102
, pp. 7882-7887
-
-
Williamson, S.H.1
Hernandez, R.2
Fledel-Alon, A.3
Zhu, L.4
Nielsen, R.5
Bustamante, C.D.6
-
49
-
-
27544497650
-
Calibrating a coalescent simulation of human genome sequence variation
-
Schaffner SF, Foo C, Gabriel S, Reich D, Daly MJ, Altshuler D (2005) Calibrating a coalescent simulation of human genome sequence variation. Genome Res 15:1576-1583
-
(2005)
Genome Res
, vol.15
, pp. 1576-1583
-
-
Schaffner, S.F.1
Foo, C.2
Gabriel, S.3
Reich, D.4
Daly, M.J.5
Altshuler, D.6
-
50
-
-
0032990407
-
Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis
-
Halushka MK, Fan JB, Bentley K, Hsie L, Shen N, Weder A, Cooper R, Lipshutz R, Chakravarti A (1999) Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis. Nat Genet 22:239-247
-
(1999)
Nat Genet
, vol.22
, pp. 239-247
-
-
Halushka, M.K.1
Fan, J.B.2
Bentley, K.3
Hsie, L.4
Shen, N.5
Weder, A.6
Cooper, R.7
Lipshutz, R.8
Chakravarti, A.9
-
51
-
-
0032991552
-
Characterization of single-nucleotide polymorphisms in coding regions of human genes
-
Cargill M, Altshuler D, Ireland J, Sklar P, Ardlie K, Patil N, Shaw N, Lane CR, Lim EP, Kalyanaraman N, et al (1999) Characterization of single-nucleotide polymorphisms in coding regions of human genes. Nat Genet 22:231-238
-
(1999)
Nat Genet
, vol.22
, pp. 231-238
-
-
Cargill, M.1
Altshuler, D.2
Ireland, J.3
Sklar, P.4
Ardlie, K.5
Patil, N.6
Shaw, N.7
Lane, C.R.8
Lim, E.P.9
Kalyanaraman, N.10
-
52
-
-
0035919656
-
Haplotype variation and linkage disequilibrium in 313 human genes
-
Stephens JC, Schneider JA, Tanguay DA, Choi J, Acharya T, Stanley SE, Jiang R, Messer CJ, Chew A, Han JH, et al (2001) Haplotype variation and linkage disequilibrium in 313 human genes. Science 293:489-493
-
(2001)
Science
, vol.293
, pp. 489-493
-
-
Stephens, J.C.1
Schneider, J.A.2
Tanguay, D.A.3
Choi, J.4
Acharya, T.5
Stanley, S.E.6
Jiang, R.7
Messer, C.J.8
Chew, A.9
Han, J.H.10
-
53
-
-
0035869223
-
Prediction of deleterious human alleles
-
Sunyaev S, Ramensky V, Koch I, Lathe W 3rd, Kondrashov AS, Bork P (2001) Prediction of deleterious human alleles. Hum Mol Genet 10:591-597
-
(2001)
Hum Mol Genet
, vol.10
, pp. 591-597
-
-
Sunyaev, S.1
Ramensky, V.2
Koch, I.3
Lathe 3rd, W.4
Kondrashov, A.S.5
Bork, P.6
-
54
-
-
0035071541
-
-
Glatt CE, DeYoung JA, Delgado S, Service SK, Giacomini KM, Edwards RH, Risch N, Freimer NB (2001) Screening a large reference sample to identify very low frequency sequence variants: comparisons between two genes. Nat Genet 27:435-438
-
Glatt CE, DeYoung JA, Delgado S, Service SK, Giacomini KM, Edwards RH, Risch N, Freimer NB (2001) Screening a large reference sample to identify very low frequency sequence variants: comparisons between two genes. Nat Genet 27:435-438
-
-
-
-
55
-
-
0348010697
-
Impact of selection, mutation rate and genetic drift on human genetic variation
-
Sunyaev S, Kondrashov FA, BorkP, Ramensky V (2003) Impact of selection, mutation rate and genetic drift on human genetic variation. Hum Mol Genet 12:3325-3330
-
(2003)
Hum Mol Genet
, vol.12
, pp. 3325-3330
-
-
Sunyaev, S.1
Kondrashov, F.A.2
Bork, P.3
Ramensky, V.4
-
56
-
-
0346103664
-
Widespread purifying selection at polymorphic sites in human protein-coding loci
-
Hughes AL, Packer B, Welch R, Bergen AW, Chanock SJ, Yeager M (2003) Widespread purifying selection at polymorphic sites in human protein-coding loci. Proc Natl Acad Sci USA 100:15754-15757
-
(2003)
Proc Natl Acad Sci USA
, vol.100
, pp. 15754-15757
-
-
Hughes, A.L.1
Packer, B.2
Welch, R.3
Bergen, A.W.4
Chanock, S.J.5
Yeager, M.6
-
57
-
-
27144539145
-
Natural selection on protein-coding genes in the human genome
-
Bustamante CD, Fledel-Alon A, Williamson S, Nielsen R, Hubisz MT, Glanowski S, Tanenbaum DM, White TJ, Sninsky JJ, Hernandez RD, et al (2005) Natural selection on protein-coding genes in the human genome. Nature 437:1153-1157
-
(2005)
Nature
, vol.437
, 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
-
59
-
-
33645115481
-
Strength of the purifying selection against different categories of the point mutations in the coding regions of the human genome
-
Gorlov IP, Kimmel M, Amos CI (2006) Strength of the purifying selection against different categories of the point mutations in the coding regions of the human genome. Hum Mol Genet 15:1143-1150
-
(2006)
Hum Mol Genet
, vol.15
, pp. 1143-1150
-
-
Gorlov, I.P.1
Kimmel, M.2
Amos, C.I.3
-
60
-
-
33745347447
-
The distribution of fitness effects of new deleterious amino acid mutations in humans
-
Eyre-Walker A, Woolfit M, Phelps T (2006) The distribution of fitness effects of new deleterious amino acid mutations in humans. Genetics 173:891-900
-
(2006)
Genetics
, vol.173
, pp. 891-900
-
-
Eyre-Walker, A.1
Woolfit, M.2
Phelps, T.3
-
61
-
-
0034924997
-
Positive and negative selection on the human genome
-
Fay JC, Wyckoff GJ, Wu CI (2001) Positive and negative selection on the human genome. Genetics 158:1227-1234
-
(2001)
Genetics
, vol.158
, pp. 1227-1234
-
-
Fay, J.C.1
Wyckoff, G.J.2
Wu, C.I.3
-
62
-
-
0036900082
-
Quantifying the slightly deleterious mutation model of molecular evolution
-
Eyre-Walker A, Keightley PD, Smith NG, Gaffney D (2002) Quantifying the slightly deleterious mutation model of molecular evolution. Mol Biol Evol 19:2142-2149
-
(2002)
Mol Biol Evol
, vol.19
, pp. 2142-2149
-
-
Eyre-Walker, A.1
Keightley, P.D.2
Smith, N.G.3
Gaffney, D.4
-
64
-
-
26444606420
-
Small fitness effect of mutations in highly conserved non-coding regions
-
Kryukov GV, Schmidt S, Sunyaev S (2005) Small fitness effect of mutations in highly conserved non-coding regions. Hum Mol Genet 14:2221-2229
-
(2005)
Hum Mol Genet
, vol.14
, pp. 2221-2229
-
-
Kryukov, G.V.1
Schmidt, S.2
Sunyaev, S.3
-
65
-
-
0037944231
-
Maximum likelihood and Bayesian methods for estimating the distribution of selective effects among classes of mutations using DNA polymorphism data
-
Bustamante CD, Nielsen R, Hartl DL (2003) Maximum likelihood and Bayesian methods for estimating the distribution of selective effects among classes of mutations using DNA polymorphism data. Theor Popul Biol 63:91-103
-
(2003)
Theor Popul Biol
, vol.63
, pp. 91-103
-
-
Bustamante, C.D.1
Nielsen, R.2
Hartl, D.L.3
-
66
-
-
0042525769
-
A population threshold for functional polymorphisms
-
Wong GK, Yang Z, Passey DA, Kibukawa M, Paddock M, Liu CR, Bolund L, Yu J (2003) A population threshold for functional polymorphisms. Genome Res 13:1873-1879
-
(2003)
Genome Res
, vol.13
, pp. 1873-1879
-
-
Wong, G.K.1
Yang, Z.2
Passey, D.A.3
Kibukawa, M.4
Paddock, M.5
Liu, C.R.6
Bolund, L.7
Yu, J.8
-
67
-
-
6944252244
-
The use of pedigree, sib-pair and association studies of common diseases for genetic mapping and epidemiology
-
Freimer N, Sabatti C (2004) The use of pedigree, sib-pair and association studies of common diseases for genetic mapping and epidemiology. Nat Genet 36:1045-1051
-
(2004)
Nat Genet
, vol.36
, pp. 1045-1051
-
-
Freimer, N.1
Sabatti, C.2
-
68
-
-
0029741063
-
The future of genetic studies of complex human diseases
-
Risch N, Merikangas K (1996) The future of genetic studies of complex human diseases. Science 273:1516-1517
-
(1996)
Science
, vol.273
, pp. 1516-1517
-
-
Risch, N.1
Merikangas, K.2
-
69
-
-
0036775432
-
Once and again-issues surrounding replication in genetic association studies
-
Hirschhorn JN, Altshuler D (2002) Once and again-issues surrounding replication in genetic association studies. J Clin Endocrinol Metab 87:4438-4441
-
(2002)
J Clin Endocrinol Metab
, vol.87
, pp. 4438-4441
-
-
Hirschhorn, J.N.1
Altshuler, D.2
-
70
-
-
13144306071
-
Genome-wide association studies for common diseases and complex traits
-
Hirschhorn JN, Daly MJ (2005) Genome-wide association studies for common diseases and complex traits. Nat Rev Genet 6:95-108
-
(2005)
Nat Rev Genet
, vol.6
, pp. 95-108
-
-
Hirschhorn, J.N.1
Daly, M.J.2
-
71
-
-
0033927916
-
Melanocortin-4 receptor mutations are a frequent and heterogeneous cause of morbid obesity
-
Vaisse C, Clement K, Durand E, Hercberg S, Guy-Grand B, Froguel P (2000) Melanocortin-4 receptor mutations are a frequent and heterogeneous cause of morbid obesity. J Clin Invest 106:253-262
-
(2000)
J Clin Invest
, vol.106
, pp. 253-262
-
-
Vaisse, C.1
Clement, K.2
Durand, E.3
Hercberg, S.4
Guy-Grand, B.5
Froguel, P.6
-
72
-
-
2442648882
-
Mutational analysis of the tyrosine phosphatome in colorectal cancers
-
Wang Z, Shen D, Parsons DW, Bardelli A, Sager J, Szabo S, Ptak J, Silliman N, Peters BA, van der Heijden MS, et al (2004) Mutational analysis of the tyrosine phosphatome in colorectal cancers. Science 304:1164-1166
-
(2004)
Science
, vol.304
, pp. 1164-1166
-
-
Wang, Z.1
Shen, D.2
Parsons, D.W.3
Bardelli, A.4
Sager, J.5
Szabo, S.6
Ptak, J.7
Silliman, N.8
Peters, B.A.9
van der Heijden, M.S.10
-
73
-
-
3843056691
-
Multiple rare alleles contribute to low plasma levels of HDL cholesterol
-
Cohen JC, Kiss RS, Pertsemlidis A, Marcel YL, McPherson R, Hobbs HH (2004) Multiple rare alleles contribute to low plasma levels of HDL cholesterol. Science 305:869-872
-
(2004)
Science
, vol.305
, pp. 869-872
-
-
Cohen, J.C.1
Kiss, R.S.2
Pertsemlidis, A.3
Marcel, Y.L.4
McPherson, R.5
Hobbs, H.H.6
-
74
-
-
33645072440
-
Gene sequencing; the race for the $1000 genome
-
Service RF
-
Service RF (2006) Gene sequencing; the race for the $1000 genome. Science 311:1544-1546
-
(2006)
Science
, vol.311
, pp. 1544-1546
-
-
-
75
-
-
24644462173
-
Accurate multiplex polony sequencing of an evolved bacterial genome
-
Shendure J, Porreca GJ, Reppas NB, Lin X, McCutcheon JP, Rosenbaum AM, Wang MD, Zhang K, Mitra RD, Church GM (2005) Accurate multiplex polony sequencing of an evolved bacterial genome. Science 309:1728-1732
-
(2005)
Science
, vol.309
, pp. 1728-1732
-
-
Shendure, J.1
Porreca, G.J.2
Reppas, N.B.3
Lin, X.4
McCutcheon, J.P.5
Rosenbaum, A.M.6
Wang, M.D.7
Zhang, K.8
Mitra, R.D.9
Church, G.M.10
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