-
1
-
-
79957932376
-
Dindel: Accurate indel calls from short-read data
-
Albers, C.A. et al. (2011) Dindel: accurate indel calls from short-read data. Genome Res., 21, 961-973.
-
(2011)
Genome Res.
, vol.21
, pp. 961-973
-
-
Albers, C.A.1
-
2
-
-
79954672317
-
Genome structural variation discovery and genotyping
-
Alkan, C. et al. (2011) Genome structural variation discovery and genotyping. Nat. Rev. Genet., 12, 363-376.
-
(2011)
Nat. Rev. Genet.
, vol.12
, pp. 363-376
-
-
Alkan, C.1
-
3
-
-
69549116107
-
BreakDancer: An algorithm for high-resolution mapping of genomic structural variation
-
Chen, K. et al. (2009) BreakDancer: an algorithm for high-resolution mapping of genomic structural variation. Nat. Methods, 6, 677-681.
-
(2009)
Nat. Methods
, vol.6
, pp. 677-681
-
-
Chen, K.1
-
4
-
-
66249148986
-
Lineage-specific biology revealed by a finished genome assembly of the mouse
-
Church, D.M. et al. (2009) Lineage-specific biology revealed by a finished genome assembly of the mouse. PLoS Biol., 7, e1000112.
-
(2009)
PLoS Biol.
, vol.7
, pp. e1000112
-
-
Church, D.M.1
-
5
-
-
84975742565
-
A map of human genome variation from population-scale sequencing
-
The 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
-
-
-
6
-
-
79955483667
-
A framework for variation discovery and genotyping using next-generation DNA sequencing data
-
DePristo, 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.1
-
7
-
-
83055181941
-
Assemblathon 1: A competitive assessment of de novo short read assembly methods
-
Earl, D. et al. (2011) Assemblathon 1: a competitive assessment of de novo short read assembly methods. Genome Res., 21, 2224-2241.
-
(2011)
Genome Res.
, vol.21
, pp. 2224-2241
-
-
Earl, D.1
-
8
-
-
35348983887
-
A second generation human HAPlotype map of over 3.1 million SNPs
-
Frazer, K.A. et al. (2007) A second generation human HAPlotype map of over 3.1 million SNPs. Nature, 449, 851-861.
-
(2007)
Nature
, vol.449
, pp. 851-861
-
-
Frazer, K.A.1
-
9
-
-
79952178131
-
High-quality draft assemblies of mammalian genomes from massively parallel sequence data
-
Gnerre, S. et al. (2011) High-quality draft assemblies of mammalian genomes from massively parallel sequence data. Proc. Natl Acad. Sci. USA, 108, 1513-1518.
-
(2011)
Proc. Natl Acad. Sci. USA
, vol.108
, pp. 1513-1518
-
-
Gnerre, S.1
-
10
-
-
77956331627
-
Integrating common and rare genetic variation in diverse human populations
-
The HapMap Consortium. (2010) Integrating common and rare genetic variation in diverse human populations. Nature, 467, 52-58.
-
(2010)
Nature
, vol.467
, pp. 52-58
-
-
-
11
-
-
80054998109
-
The new date, new format, new goals and new sponsor of the archon genomics x PRIZE competition
-
Kedes, L. and Campany, G. (2011) The new date, new format, new goals and new sponsor of the archon genomics x PRIZE competition. Nat. Genet., 43, 1055-1058.
-
(2011)
Nat. Genet.
, vol.43
, pp. 1055-1058
-
-
Kedes, L.1
Campany, G.2
-
12
-
-
77952242983
-
Characterization of missing human genome sequences and copy-number polymorphic insertions
-
Kidd, J.M. et al. (2010a) Characterization of missing human genome sequences and copy-number polymorphic insertions. Nat. Methods, 7, 365-371.
-
(2010)
Nat. Methods
, vol.7
, pp. 365-371
-
-
Kidd, J.M.1
-
13
-
-
79251493015
-
A human genome structural variation sequencing resource reveals insights into mutational mechanisms
-
Kidd, J.M. et al. (2010b) A human genome structural variation sequencing resource reveals insights into mutational mechanisms. Cell, 143, 837-847.
-
(2010)
Cell
, vol.143
, pp. 837-847
-
-
Kidd, J.M.1
-
14
-
-
35648976118
-
The diploid genome sequence of an individual human
-
Levy, S. et al. (2007) The diploid genome sequence of an individual human. PLoS Biol., 5, e254.
-
(2007)
PLoS Biol.
, vol.5
, pp. e254
-
-
Levy, S.1
-
15
-
-
68549104404
-
The sequence alignment/map (sam) format and samtools
-
Li, H. et al. (2009) The sequence alignment/map (sam) format and samtools. Bioinformatics, 25, 2078-2079.
-
(2009)
Bioinformatics
, vol.25
, pp. 2078-2079
-
-
Li, H.1
-
16
-
-
84911373484
-
Low concordance of variant calling algorithms in exome sequencing
-
San Francisco, CA
-
Lyon, G. et al. (2012) Low concordance of variant calling algorithms in exome sequencing. In: Meeting of The American Society of Human Genetics. San Francisco, CA.
-
(2012)
Meeting of the American Society of Human Genetics
-
-
Lyon, G.1
-
17
-
-
78650775954
-
The $1, 000 genome, the $100, 000 analysis?
-
Mardis, E.R. (2010) The $1, 000 genome, the $100, 000 analysis? Genome Med., 2, 84.
-
(2010)
Genome Med.
, vol.2
, pp. 84
-
-
Mardis, E.R.1
-
18
-
-
84865226981
-
Next-generation sequencing data interpretation: Enhancing reproducibility and accessibility
-
Nekrutenko, A. and Taylor, J. (2012) Next-generation sequencing data interpretation: enhancing reproducibility and accessibility. Nat. Rev. Genet., 13, 667-672.
-
(2012)
Nat. Rev. Genet.
, vol.13
, pp. 667-672
-
-
Nekrutenko, A.1
Taylor, J.2
-
19
-
-
84863766054
-
For better or worse, benchmarks shape a field: Technical perspective
-
Patterson, D. (2012) For better or worse, benchmarks shape a field: technical perspective. Commun. ACM., 55, 104.
-
(2012)
Commun. ACM.
, vol.55
, pp. 104
-
-
Patterson, D.1
-
20
-
-
80052851948
-
Sequence-based characterization of structural variation in the mouse genome
-
Yalcin, B. et al. (2011) Sequence-based characterization of structural variation in the mouse genome. Nature, 477, 326-329.
-
(2011)
Nature
, vol.477
, pp. 326-329
-
-
Yalcin, B.1
-
21
-
-
70350694443
-
Pindel: A pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads
-
Ye, K. et al. (2009) Pindel: a pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads. Bioinformatics, 25, 2865-2871.
-
(2009)
Bioinformatics
, vol.25
, pp. 2865-2871
-
-
Ye, K.1
-
22
-
-
84900475972
-
Genomes in a bottle: Creating standard reference materials for genomic variation-why
-
Zook, J.M. and Salit, M. (2011) Genomes in a bottle: creating standard reference materials for genomic variation-why, what and how? Genome Biol., 12, P31.
-
(2011)
What and How? Genome Biol.
, vol.12
, pp. P31
-
-
Zook, J.M.1
Salit, M.2
|