-
1
-
-
84863116742
-
A systematic survey of loss-of-function variants in human protein-coding genes
-
MacArthur DG, Balasubramanian S, Frankish A, Huang N, Morris J, et al. (2012) A systematic survey of loss-of-function variants in human protein-coding genes. Science 335: 823-828.
-
(2012)
Science
, vol.335
, pp. 823-828
-
-
MacArthur, D.G.1
Balasubramanian, S.2
Frankish, A.3
Huang, N.4
Morris, J.5
-
2
-
-
84860817223
-
Recent explosive human population growth has resulted in an excess of rare genetic variants
-
Keinan A, Clark AG, (2012) Recent explosive human population growth has resulted in an excess of rare genetic variants. Science 336: 740-743.
-
(2012)
Science
, vol.336
, pp. 740-743
-
-
Keinan, A.1
Clark, A.G.2
-
3
-
-
78650895972
-
Loss-of-function variants in the genomes of healthy humans
-
MacArthur DG, Tyler-Smith C, (2010) Loss-of-function variants in the genomes of healthy humans. Human Molecular Genetics 19: R125-130.
-
(2010)
Human Molecular Genetics
, vol.19
-
-
MacArthur, D.G.1
Tyler-Smith, C.2
-
4
-
-
70350651269
-
Global patterns of cis variation in human cells revealed by high-density allelic expression analysis
-
Ge B, Pokholok DK, Kwan T, Grundberg E, Morcos L, et al. (2009) Global patterns of cis variation in human cells revealed by high-density allelic expression analysis. Nature Genetics 41: 1216-1222.
-
(2009)
Nature Genetics
, vol.41
, pp. 1216-1222
-
-
Ge, B.1
Pokholok, D.K.2
Kwan, T.3
Grundberg, E.4
Morcos, L.5
-
5
-
-
61449218868
-
Targeted screening of cis-regulatory variation in human haplotypes
-
Verlaan DJ, Ge B, Grundberg E, Hoberman R, Lam KCL, et al. (2009) Targeted screening of cis-regulatory variation in human haplotypes. Genome Research 19: 118-127.
-
(2009)
Genome Research
, vol.19
, pp. 118-127
-
-
Verlaan, D.J.1
Ge, B.2
Grundberg, E.3
Hoberman, R.4
Lam, K.C.L.5
-
6
-
-
84862751980
-
Interaction between genetic and epigenetic variation defines gene expression patterns at the asthma-associated locus 17q12-q21 in lymphoblastoid cell lines
-
Berlivet S, Moussette S, Ouimet M, Verlaan DJ, Koka V, et al. (2012) Interaction between genetic and epigenetic variation defines gene expression patterns at the asthma-associated locus 17q12-q21 in lymphoblastoid cell lines. Human Genetics 131: 1161-1171.
-
(2012)
Human Genetics
, vol.131
, pp. 1161-1171
-
-
Berlivet, S.1
Moussette, S.2
Ouimet, M.3
Verlaan, D.J.4
Koka, V.5
-
7
-
-
84861311934
-
Skewed allele-specific expression of the NF1 gene in normal subjects: a possible mechanism for phenotypic variability in neurofibromatosis type 1
-
Jentarra GM, Rice SG, Olfers S, Rajan C, Saffen DM, et al. (2012) Skewed allele-specific expression of the NF1 gene in normal subjects: a possible mechanism for phenotypic variability in neurofibromatosis type 1. Journal of Child Neurology 27: 695-702.
-
(2012)
Journal of Child Neurology
, vol.27
, pp. 695-702
-
-
Jentarra, G.M.1
Rice, S.G.2
Olfers, S.3
Rajan, C.4
Saffen, D.M.5
-
8
-
-
79951494607
-
TMEM106B regulates progranulin levels and the penetrance of FTLD in GRN mutation carriers
-
Finch N, Carrasquillo MM, Baker M, Rutherford NJ, Coppola G, et al. (2011) TMEM106B regulates progranulin levels and the penetrance of FTLD in GRN mutation carriers. Neurology 76: 467-474.
-
(2011)
Neurology
, vol.76
, pp. 467-474
-
-
Finch, N.1
Carrasquillo, M.M.2
Baker, M.3
Rutherford, N.J.4
Coppola, G.5
-
9
-
-
77955081986
-
Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability
-
Emison ES, Garcia-Barcelo M, Grice EA, Lantieri F, Amiel J, et al. (2010) Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability. American Journal of Human Genetics 87: 60-74.
-
(2010)
American Journal of Human Genetics
, vol.87
, pp. 60-74
-
-
Emison, E.S.1
Garcia-Barcelo, M.2
Grice, E.A.3
Lantieri, F.4
Amiel, J.5
-
10
-
-
84859786757
-
Effects of BRCA2 cis-regulation in normal breast and cancer risk amongst BRCA2 mutation carriers
-
Maia A-T, Antoniou AC, O'Reilly M, Samarajiwa S, Dunning M, et al. (2012) Effects of BRCA2 cis-regulation in normal breast and cancer risk amongst BRCA2 mutation carriers. Breast Cancer Research 14: R63-R63.
-
(2012)
Breast Cancer Research
, vol.14
-
-
Maia, A.-T.1
Antoniou, A.C.2
O'Reilly, M.3
Samarajiwa, S.4
Dunning, M.5
-
11
-
-
84901611255
-
Quantifying RNA allelic ratios by microfluidic multiplex PCR and sequencing
-
Zhang R, Ramawami G, Smith K, Gustavo T, Montgomery SB, et al. (2013) Quantifying RNA allelic ratios by microfluidic multiplex PCR and sequencing. Nature Methods [Available online 24 November 2013].
-
(2013)
Nature Methods
-
-
Zhang, R.1
Ramawami, G.2
Smith, K.3
Gustavo, T.4
Montgomery, S.B.5
-
12
-
-
0035173378
-
dbSNP: the NCBI database of genetic variation
-
Sherry ST, Ward MH, Kholodov M, Baker J, Phan L, et al. (2001) dbSNP: the NCBI database of genetic variation. Nucleic Acids Research 29: 308-311.
-
(2001)
Nucleic Acids Research
, vol.29
, pp. 308-311
-
-
Sherry, S.T.1
Ward, M.H.2
Kholodov, M.3
Baker, J.4
Phan, L.5
-
13
-
-
84975742565
-
A map of human genome variation from population-scale sequencing
-
Abecasis GR, Altshuler D, Auton A, Brooks LD, Durbin RM, et al. (2010) A map of human genome variation from population-scale sequencing. Nature 467: 1061-1073.
-
(2010)
Nature
, vol.467
, pp. 1061-1073
-
-
Abecasis, G.R.1
Altshuler, D.2
Auton, A.3
Brooks, L.D.4
Durbin, R.M.5
-
14
-
-
84901629857
-
-
NHLBI GO Exome Sequencing Project (ESP). Available:. Accessed 8 April 2014
-
NHLBI GO Exome Sequencing Project (ESP). Available: https://esp.gs.washington.edu/drupal/. Accessed 8 April 2014.
-
-
-
-
15
-
-
0043122919
-
SIFT: Predicting amino acid changes that affect protein function
-
Ng PC, Henikoff S, (2003) SIFT: Predicting amino acid changes that affect protein function. Nucleic Acids Research 31: 3812-3814.
-
(2003)
Nucleic Acids Research
, vol.31
, pp. 3812-3814
-
-
Ng, P.C.1
Henikoff, S.2
-
16
-
-
77951640946
-
A method and server for predicting damaging missense mutations
-
Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, et al. (2010) A method and server for predicting damaging missense mutations. Nature Methods 7: 248-249.
-
(2010)
Nature Methods
, vol.7
, pp. 248-249
-
-
Adzhubei, I.A.1
Schmidt, S.2
Peshkin, L.3
Ramensky, V.E.4
Gerasimova, A.5
-
17
-
-
70349910898
-
Effect of read-mapping biases on detecting allele-specific expression from RNA-sequencing data
-
Degner JF, Marioni JC, Pai AA, Pickrell JK, Nkadori E, et al. (2009) Effect of read-mapping biases on detecting allele-specific expression from RNA-sequencing data. Bioinformatics 25: 3207-3212.
-
(2009)
Bioinformatics
, vol.25
, pp. 3207-3212
-
-
Degner, J.F.1
Marioni, J.C.2
Pai, A.A.3
Pickrell, J.K.4
Nkadori, E.5
-
18
-
-
16944363776
-
The human necdin gene, NDN, is maternally imprinted and located in the Prader-Willi syndrome chromosomal region
-
Jay P, Rougeulle C, Massacrier A, Moncla A, Mattei MG, et al. (1997) The human necdin gene, NDN, is maternally imprinted and located in the Prader-Willi syndrome chromosomal region. Nat Genet 17: 357-361.
-
(1997)
Nat Genet
, vol.17
, pp. 357-361
-
-
Jay, P.1
Rougeulle, C.2
Massacrier, A.3
Moncla, A.4
Mattei, M.G.5
-
19
-
-
42149091597
-
Real-time PCR analysis of candidate imprinted genes on mouse chromosome 11 shows balanced expression from the maternal and paternal chromosomes and strain-specific variation in expression levels
-
Tuskan RG, Tsang S, Sun Z, Baer J, Rozenblum E, et al. (2008) Real-time PCR analysis of candidate imprinted genes on mouse chromosome 11 shows balanced expression from the maternal and paternal chromosomes and strain-specific variation in expression levels. Epigenetics 3: 43-50.
-
(2008)
Epigenetics
, vol.3
, pp. 43-50
-
-
Tuskan, R.G.1
Tsang, S.2
Sun, Z.3
Baer, J.4
Rozenblum, E.5
-
20
-
-
33644662511
-
Analysis of allelic differential expression in human white blood cells
-
Pant PV, Tao H, Beilharz EJ, Ballinger DG, Cox DR, et al. (2006) Analysis of allelic differential expression in human white blood cells. Genome Res 16: 331-339.
-
(2006)
Genome Res
, vol.16
, pp. 331-339
-
-
Pant, P.V.1
Tao, H.2
Beilharz, E.J.3
Ballinger, D.G.4
Cox, D.R.5
-
21
-
-
68349089152
-
Digital RNA allelotyping reveals tissue-specific and allele-specific gene expression in human
-
Zhang K, Li JB, Gao Y, Egli D, Xie B, et al. (2009) Digital RNA allelotyping reveals tissue-specific and allele-specific gene expression in human. Nature Methods 6: 613-618.
-
(2009)
Nature Methods
, vol.6
, pp. 613-618
-
-
Zhang, K.1
Li, J.B.2
Gao, Y.3
Egli, D.4
Xie, B.5
-
22
-
-
0034056133
-
Online Mendelian Inheritance in Man (OMIM) as a knowledgebase for human developmental disorders
-
Boyadjiev SA, Jabs EW, (2000) Online Mendelian Inheritance in Man (OMIM) as a knowledgebase for human developmental disorders. Clin Genet 57: 253-266.
-
(2000)
Clin Genet
, vol.57
, pp. 253-266
-
-
Boyadjiev, S.A.1
Jabs, E.W.2
-
23
-
-
0031734161
-
Transient trimethylaminuria in childhood
-
Mayatepek E, Kohlmüller D, (1998) Transient trimethylaminuria in childhood. Acta Paediatrica 87: 1205-1207.
-
(1998)
Acta Paediatrica
, vol.87
, pp. 1205-1207
-
-
Mayatepek, E.1
Kohlmüller, D.2
-
24
-
-
0030667523
-
Missense mutation in flavin-containing mono-oxygenase 3 gene, FMO3, underlies fish-odour syndrome
-
Dolphin CT, Janmohamed A, Smith RL, Shephard EA, Phillips IR, (1997) Missense mutation in flavin-containing mono-oxygenase 3 gene, FMO3, underlies fish-odour syndrome. Nature Genetics 17: 491-494.
-
(1997)
Nature Genetics
, vol.17
, pp. 491-494
-
-
Dolphin, C.T.1
Janmohamed, A.2
Smith, R.L.3
Shephard, E.A.4
Phillips, I.R.5
-
25
-
-
80052731734
-
Epistatic Selection between Coding and Regulatory Variation in Human Evolution and Disease
-
Lappalainen T, Montgomery SB, Nica AC, Dermitzakis ET, (2011) Epistatic Selection between Coding and Regulatory Variation in Human Evolution and Disease. American Journal of Human Genetics 89: 459-463.
-
(2011)
American Journal of Human Genetics
, vol.89
, pp. 459-463
-
-
Lappalainen, T.1
Montgomery, S.B.2
Nica, A.C.3
Dermitzakis, E.T.4
-
26
-
-
84855925920
-
Rare and common variants: twenty arguments
-
Gibson G, (2011) Rare and common variants: twenty arguments. Nature Reviews Genetics 13: 135-145.
-
(2011)
Nature Reviews Genetics
, vol.13
, pp. 135-145
-
-
Gibson, G.1
-
27
-
-
67649884743
-
Fast and accurate short read alignment with Burrows-Wheeler transform
-
Li H, Durbin R, (2009) Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 25: 1754-1760.
-
(2009)
Bioinformatics
, vol.25
, pp. 1754-1760
-
-
Li, H.1
Durbin, R.2
-
28
-
-
77956295988
-
The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data
-
McKenna A, Hanna M, Banks E, Sivachenko A, Cibulskis K, et al. (2010) The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Research 20: 1297-1303.
-
(2010)
Genome Research
, vol.20
, pp. 1297-1303
-
-
McKenna, A.1
Hanna, M.2
Banks, E.3
Sivachenko, A.4
Cibulskis, K.5
-
29
-
-
65449136284
-
TopHat: discovering splice junctions with RNA-Seq
-
Trapnell C, Pachter L, Salzberg SL, (2009) TopHat: discovering splice junctions with RNA-Seq. Bioinformatics (Oxford, England) 25: 1105-1111.
-
(2009)
Bioinformatics (Oxford, England)
, vol.25
, pp. 1105-1111
-
-
Trapnell, C.1
Pachter, L.2
Salzberg, S.L.3
-
30
-
-
77952123055
-
Transcript assembly and quantification by RNA-Seq reveals unannotated transcripts and isoform switching during cell differentiation
-
Trapnell C, Williams Ba, Pertea G, Mortazavi A, Kwan G, et al. (2010) Transcript assembly and quantification by RNA-Seq reveals unannotated transcripts and isoform switching during cell differentiation. Nature biotechnology 28: 511-515.
-
(2010)
Nature Biotechnology
, vol.28
, pp. 511-515
-
-
Trapnell, C.1
Williams, B.2
Pertea, G.3
Mortazavi, A.4
Kwan, G.5
-
31
-
-
84871809302
-
STAR: ultrafast universal RNA-seq aligner
-
Dobin A, Davis Ca, Schlesinger F, Drenkow J, Zaleski C, et al. (2013) STAR: ultrafast universal RNA-seq aligner. Bioinformatics (Oxford, England) 29: 15-21.
-
(2013)
Bioinformatics (Oxford, England)
, vol.29
, pp. 15-21
-
-
Dobin, A.1
Davis, C.2
Schlesinger, F.3
Drenkow, J.4
Zaleski, C.5
-
32
-
-
68549104404
-
The Sequence Alignment/Map format and SAMtools
-
Li H, Handsaker B, Wysoker A, Fennell T, Ruan J, et al. (2009) The Sequence Alignment/Map format and SAMtools. Bioinformatics 25: 2078-2079.
-
(2009)
Bioinformatics
, vol.25
, pp. 2078-2079
-
-
Li, H.1
Handsaker, B.2
Wysoker, A.3
Fennell, T.4
Ruan, J.5
|