-
1
-
-
78650502736
-
Pfsnp: An integrated potentially functional SNP resource that facilitates hypotheses generation through knowledge syntheses
-
Wang, J., Ronaghi, M., Chong, S.S. and Lee, C.G. (2011) pfSNP: an integrated potentially functional SNP resource that facilitates hypotheses generation through knowledge syntheses. Hum. Mutat., 32, 19-24.
-
(2011)
Hum. Mutat.
, vol.32
, pp. 19-24
-
-
Wang, J.1
Ronaghi, M.2
Chong, S.S.3
Lee, C.G.4
-
2
-
-
61449107734
-
Snpnexus: A web database for functional annotation of newly discovered and public domain single nucleotide polymorphisms
-
Chelala, C., Khan, A. and Lemoine, N.R. (2009) SNPnexus: a web database for functional annotation of newly discovered and public domain single nucleotide polymorphisms. Bioinformatics, 25, 655-661.
-
(2009)
Bioinformatics
, vol.25
, pp. 655-661
-
-
Chelala, C.1
Khan, A.2
Lemoine, N.R.3
-
3
-
-
77951959817
-
Candisnper: A web tool for the identification of candidate snps for causal variants
-
Schmitt, A.O., Assmus, J., Bortfeldt, R.H. and Brockmann, G.A. (2010) CandiSNPer: a web tool for the identification of candidate SNPs for causal variants. Bioinformatics, 26, 969-970.
-
(2010)
Bioinformatics
, vol.26
, pp. 969-970
-
-
Schmitt, A.O.1
Assmus, J.2
Bortfeldt, R.H.3
Brockmann, G.A.4
-
4
-
-
0036948098
-
Snpper: Retrieval and analysis of human SNPs
-
Riva, A. and Kohane, I.S. (2002) SNPper: retrieval and analysis of human SNPs. Bioinformatics, 18, 1681-1685.
-
(2002)
Bioinformatics
, vol.18
, pp. 1681-1685
-
-
Riva, A.1
Kohane, I.S.2
-
5
-
-
79955483667
-
A framework for variation discovery and genotyping using next-generation DNA sequencing data
-
DePristo, M.A., Banks, E., Poplin, R., Garimella, K.V., Maguire, J.R., Hartl, C., Philippakis, A.A., del Angel, G., Rivas, M.A., Hanna, M. et al. (2011) A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat. Genet., 43, 491-498.
-
(2011)
Nat. Genet.
, vol.43
, pp. 491-498
-
-
Depristo, M.A.1
Banks, E.2
Poplin, R.3
Garimella, K.V.4
Maguire, J.R.5
Hartl, C.6
Philippakis, A.A.7
Del Angel, G.8
Rivas, M.A.9
Hanna, M.10
-
6
-
-
79960142070
-
SVA: Software for annotating and visualizing sequenced human genomes
-
Ge, D., Ruzzo, E.K., Shianna, K.V., He, M., Pelak, K., Heinzen, E.L., Need, A.C., Cirulli, E.T., Maia, J.M., Dickson, S.P. et al. (2011) SVA: software for annotating and visualizing sequenced human genomes. Bioinformatics (Oxford, England), 27, 1998-2000.
-
(2011)
Bioinformatics (Oxford, England)
, vol.27
, pp. 1998-2000
-
-
Ge, D.1
Ruzzo, E.K.2
Shianna, K.V.3
He, M.4
Pelak, K.5
Heinzen, E.L.6
Need, A.C.7
Cirulli, E.T.8
Maia, J.M.9
Dickson, S.P.10
-
7
-
-
84857831329
-
Anntools: A comprehensive and versatile annotation toolkit for genomic variants
-
Makarov, V., O'Grady, T., Cai, G., Lihm, J., Buxbaum, J.D. and Yoon, S. (2012) AnnTools: a comprehensive and versatile annotation toolkit for genomic variants. Bioinformatics (Oxford, England), 28, 724-725.
-
(2012)
Bioinformatics (Oxford, England)
, vol.28
, pp. 724-725
-
-
Makarov, V.1
O'Grady, T.2
Cai, G.3
Lihm, J.4
Buxbaum, J.D.5
Yoon, S.6
-
8
-
-
77956534324
-
ANNOVAR: Functional annotation of genetic variants from high-throughput sequencing data
-
Wang, K., Li, M. and Hakonarson, H. (2010) ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res., 38, e164.
-
(2010)
Nucleic Acids Res.
, vol.38
-
-
Wang, K.1
Li, M.2
Hakonarson, H.3
-
9
-
-
48449096116
-
Genowatch: A disease gene mining browser for association study
-
Chen, Y.H., Liu, C.K., Chang, S.C., Lin, Y.J., Tsai, M.F., Chen, Y.T. and Yao, A. (2008) GenoWatch: a disease gene mining browser for association study. Nucleic Acids Res., 36, W336-W340.
-
(2008)
Nucleic Acids Res.
, vol.36
-
-
Chen, Y.H.1
Liu, C.K.2
Chang, S.C.3
Lin, Y.J.4
Tsai, M.F.5
Chen, Y.T.6
Yao, A.7
-
10
-
-
84857422020
-
GenBank
-
Benson, D.A., Karsch-Mizrachi, I., Clark, K., Lipman, D.J., Ostell, J. and Sayers, E.W. (2012) GenBank. Nucleic Acids Res., 40, D48-D53.
-
(2012)
Nucleic Acids Res.
, vol.40
-
-
Benson, D.A.1
Karsch-Mizrachi, I.2
Clark, K.3
Lipman, D.J.4
Ostell, J.5
Sayers, E.W.6
-
11
-
-
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
-
12
-
-
58149178579
-
NCBI reference sequences: Current status, policy and new initiatives
-
Pruitt, K.D., Tatusova, T., Klimke, W. and Maglott, D.R. (2009) NCBI Reference Sequences: current status, policy and new initiatives. Nucleic Acids Res., 37, D32-D36.
-
(2009)
Nucleic Acids Res.
, vol.37
-
-
Pruitt, K.D.1
Tatusova, T.2
Klimke, W.3
Maglott, D.R.4
-
13
-
-
84860833500
-
Reorganizing the protein space at the Universal Protein Resource (UniProt)
-
UniProt Consortium
-
UniProt Consortium. (2012) Reorganizing the protein space at the Universal Protein Resource (UniProt). Nucleic Acids Res., 40, D71-D75.
-
(2012)
Nucleic Acids Res.
, vol.40
-
-
-
14
-
-
0345863935
-
The KEGG resource for deciphering the genome
-
Kanehisa, M., Goto, S., Kawashima, S., Okuno, Y. and Hattori, M. (2004) The KEGG resource for deciphering the genome. Nucleic Acids Res., 32, D277-D280.
-
(2004)
Nucleic Acids Res.
, vol.32
-
-
Kanehisa, M.1
Goto, S.2
Kawashima, S.3
Okuno, Y.4
Hattori, M.5
-
15
-
-
58149187893
-
The GOA database in 2009: An integrated Gene Ontology Annotation resource
-
Barrell, D., Dimmer, E., Huntley, R.P., Binns, D., O'Donovan, C. and Apweiler, R. (2009) The GOA database in 2009: an integrated Gene Ontology Annotation resource. Nucleic Acids Res., 37, D396-D403.
-
(2009)
Nucleic Acids Res.
, vol.37
-
-
Barrell, D.1
Dimmer, E.2
Huntley, R.P.3
Binns, D.4
O'Donovan, C.5
Apweiler, R.6
-
16
-
-
57649193091
-
Functional analysis of novel SNPs and mutations in human and mouse genomes
-
Liu, C.K., Chen, Y.H., Tang, C.Y., Chang, S.C., Lin, Y.J., Tsai, M.F., Chen, Y.T. and Yao, A. (2008) Functional analysis of novel SNPs and mutations in human and mouse genomes. BMC Bioinformatics, 9(Suppl. 12), S10.
-
(2008)
BMC Bioinformatics
, vol.9
, Issue.SUPPL. 12
-
-
Liu, C.K.1
Chen, Y.H.2
Tang, C.Y.3
Chang, S.C.4
Lin, Y.J.5
Tsai, M.F.6
Chen, Y.T.7
Yao, A.8
-
17
-
-
3242888697
-
RESCUE-ESE identifies candidate exonic splicing enhancers in vertebrate exons
-
Fairbrother, W.G., Yeo, G.W., Yeh, R., Goldstein, P., Mawson, M., Sharp, P.A. and Burge, C.B. (2004) RESCUE-ESE identifies candidate exonic splicing enhancers in vertebrate exons. Nucleic Acids Res., 32, W187-W190.
-
(2004)
Nucleic Acids Res.
, vol.32
-
-
Fairbrother, W.G.1
Yeo, G.W.2
Yeh, R.3
Goldstein, P.4
Mawson, M.5
Sharp, P.A.6
Burge, C.B.7
-
18
-
-
10944256767
-
Systematic identification and analysis of exonic splicing silencers
-
Wang, Z., Rolish, M.E., Yeo, G., Tung, V., Mawson, M. and Burge, C.B. (2004) Systematic identification and analysis of exonic splicing silencers. Cell, 119, 831-845.
-
(2004)
Cell
, vol.119
, pp. 831-845
-
-
Wang, Z.1
Rolish, M.E.2
Yeo, G.3
Tung, V.4
Mawson, M.5
Burge, C.B.6
-
19
-
-
84975742565
-
A map of human genome variation from population-scale sequencing
-
1000 Genomes Project Consortium
-
1000 Genomes Project Consortium. (2010) A map of human genome variation from population-scale sequencing. Nature, 467, 1061-1073.
-
(2010)
Nature
, vol.467
, pp. 1061-1073
-
-
-
20
-
-
79954986866
-
A new face and new challenges for Online Mendelian Inheritance in Man (OMIM(R))
-
Amberger, J., Bocchini, C. and Hamosh, A. (2011) A new face and new challenges for Online Mendelian Inheritance in Man (OMIM(R)). Hum. Mutat., 32, 564-567.
-
(2011)
Hum. Mutat.
, vol.32
, pp. 564-567
-
-
Amberger, J.1
Bocchini, C.2
Hamosh, A.3
-
21
-
-
0036226603
-
BLAT: The blast-like alignment tool
-
Kent, W.J. (2002) BLAT: the BLAST-like alignment tool. Genome Res., 12, 656-664.
-
(2002)
Genome Res.
, vol.12
, pp. 656-664
-
-
Kent, W.J.1
-
22
-
-
79959524146
-
A haplotype map of the human genome
-
International HapMap Consortium
-
International HapMap Consortium. (2005) A haplotype map of the human genome. Nature, 437, 1299-1320.
-
(2005)
Nature
, vol.437
, pp. 1299-1320
-
-
-
23
-
-
0043122919
-
SIFT: Predicting amino acid changes that affect protein function
-
Ng, P.C. and Henikoff, S. (2003) SIFT: predicting amino acid changes that affect protein function. Nucleic Acids Res., 31, 3812-3814.
-
(2003)
Nucleic Acids Res.
, vol.31
, pp. 3812-3814
-
-
Ng, P.C.1
Henikoff, S.2
-
24
-
-
84856105903
-
MirdSNP: A database of disease-associated SNPs and microrna target sites on 30utrs of human genes
-
Bruno, A.E., Li, L., Kalabus, J.L., Pan, Y., Yu, A. and Hu, Z. (2012) mirdSNP: a database of disease-associated SNPs and microRNA target sites on 30UTRs of human genes. BMC genomics, 13, 44.
-
(2012)
BMC genomics
, vol.13
, pp. 44
-
-
Bruno, A.E.1
Li, L.2
Kalabus, J.L.3
Pan, Y.4
Yu, A.5
Hu, Z.6
-
25
-
-
84861063896
-
SNPedia: A wiki supporting personal genome annotation, interpretation and analysis
-
Cariaso, M. and Lennon, G. (2012) SNPedia: a wiki supporting personal genome annotation, interpretation and analysis. Nucleic Acids Res., 40, D1308-D1312.
-
(2012)
Nucleic Acids Res.
, vol.40
-
-
Cariaso, M.1
Lennon, G.2
-
26
-
-
67249117049
-
Potential etiologic and functional implications of genome-wide association loci for human diseases and traits
-
Hindorff, L.A., Sethupathy, P., Junkins, H.A., Ramos, E.M., Mehta, J.P., Collins, F.S. and Manolio, T.A. (2009) Potential etiologic and functional implications of genome-wide association loci for human diseases and traits. Proc. Natl Acad. Sci. USA, 106, 9362-9367.
-
(2009)
Proc. Natl Acad. Sci. USA
, vol.106
, pp. 9362-9367
-
-
Hindorff, L.A.1
Sethupathy, P.2
Junkins, H.A.3
Ramos, E.M.4
Mehta, J.P.5
Collins, F.S.6
Manolio, T.A.7
|