-
1
-
-
78651313653
-
The next phase in human genetics
-
Bansal, V. et al. The next phase in human genetics. Nat. Biotechnol. 29, 38-39 (2011)
-
(2011)
Nat. Biotechnol.
, vol.29
, pp. 38-39
-
-
Bansal, V.1
-
2
-
-
79951810290
-
The importance of phase information for human genomics
-
Tewhey, R. et al. The importance of phase information for human genomics. Nat. Rev. Genet. 12, 215-223 (2011)
-
(2011)
Nat. Rev. Genet.
, vol.12
, pp. 215-223
-
-
Tewhey, R.1
-
3
-
-
84863954202
-
Non-invasive prenatal measurement of the fetal genome
-
Fan, H.C. et al. Non-invasive prenatal measurement of the fetal genome. Nature 487, 320-324 (2012)
-
(2012)
Nature
, vol.487
, pp. 320-324
-
-
Fan, H.C.1
-
4
-
-
84862118837
-
Noninvasive whole-genome sequencing of a human fetus
-
Kitzman, J.O. et al. Noninvasive whole-genome sequencing of a human fetus. Sci. Transl. Med. 4, 137ra76 (2012)
-
(2012)
Sci. Transl. Med.
, vol.4
, pp. 137ra76
-
-
Kitzman, J.O.1
-
5
-
-
0037167852
-
Detecting recent positive selection in the human genome from haplotype structure
-
Sabeti, P.C. et al. Detecting recent positive selection in the human genome from haplotype structure. Nature 419, 832-837 (2002)
-
(2002)
Nature
, vol.419
, pp. 832-837
-
-
Sabeti, P.C.1
-
6
-
-
84881401766
-
The haplotype-resolved genome and epigenome of the aneuploid HeLa cancer cell line
-
Adey, A. et al. The haplotype-resolved genome and epigenome of the aneuploid HeLa cancer cell line. Nature 500, 207-211 (2013)
-
(2013)
Nature
, vol.500
, pp. 207-211
-
-
Adey, A.1
-
7
-
-
0029667388
-
Global patterns of linkage disequilibrium at the CD4 locus and modern human origins
-
Tishkoff, S.A. et al. Global patterns of linkage disequilibrium at the CD4 locus and modern human origins. Science 271, 1380-1387 (1996)
-
(1996)
Science
, vol.271
, pp. 1380-1387
-
-
Tishkoff, S.A.1
-
8
-
-
50449089222
-
Detection of sharing by descent, long-range phasing and haplotype imputation
-
Kong, A. et al. Detection of sharing by descent, long-range phasing and haplotype imputation. Nat. Genet. 40, 1068-1075 (2008)
-
(2008)
Nat. Genet.
, vol.40
, pp. 1068-1075
-
-
Kong, A.1
-
9
-
-
84878251175
-
Phase-defined complete sequencing of the HLA genes by next-generation sequencing
-
Hosomichi, K. et al. Phase-defined complete sequencing of the HLA genes by next-generation sequencing. BMC Genomics 14, 355 (2013)
-
(2013)
BMC Genomics
, vol.14
, pp. 355
-
-
Hosomichi, K.1
-
10
-
-
80053019891
-
Haplotype phasing: Existing methods and new developments
-
Browning, S.R. & Browning, B.L. Haplotype phasing: existing methods and new developments. Nat. Rev. Genet. 12, 703-714 (2011)
-
(2011)
Nat. Rev. Genet.
, vol.12
, pp. 703-714
-
-
Browning, S.R.1
Browning, B.L.2
-
11
-
-
48949103013
-
An MCMC algorithm for haplotype assembly from whole-genome sequence data
-
Bansal, V. et al. An MCMC algorithm for haplotype assembly from whole-genome sequence data. Genome Res. 18, 1336-1346 (2008)
-
(2008)
Genome Res.
, vol.18
, pp. 1336-1346
-
-
Bansal, V.1
-
12
-
-
77954211441
-
Optimal algorithms for haplotype assembly from whole-genome sequence data
-
He, D. et al. Optimal algorithms for haplotype assembly from whole-genome sequence data. Bioinformatics 26, i183-i190 (2010)
-
(2010)
Bioinformatics
, vol.26
, pp. i183-i190
-
-
He, D.1
-
13
-
-
84875864497
-
Whole-genome haplotyping by dilution, amplification, and sequencing
-
Kaper, F. et al. Whole-genome haplotyping by dilution, amplification, and sequencing. Proc. Natl. Acad. Sci. USA 110, 5552-5557 (2013)
-
(2013)
Proc. Natl. Acad. Sci. USA
, vol.110
, pp. 5552-5557
-
-
Kaper, F.1
-
14
-
-
78651333227
-
Haplotype-resolved genome sequencing of a Gujarati Indian individual
-
Kitzman, J.O. et al. Haplotype-resolved genome sequencing of a Gujarati Indian individual. Nat. Biotechnol. 29, 59-63 (2011)
-
(2011)
Nat. Biotechnol.
, vol.29
, pp. 59-63
-
-
Kitzman, J.O.1
-
15
-
-
84863637922
-
Accurate whole-genome sequencing and haplotyping from 10 to 20 human cells
-
Peters, B.A. et al. Accurate whole-genome sequencing and haplotyping from 10 to 20 human cells. Nature 487, 190-195 (2012)
-
(2012)
Nature
, vol.487
, pp. 190-195
-
-
Peters, B.A.1
-
16
-
-
78651304279
-
Whole-genome molecular haplotyping of single cells
-
Fan, H.C. et al. Whole-genome molecular haplotyping of single cells. Nat. Biotechnol. 29, 51-57 (2011)
-
(2011)
Nat. Biotechnol.
, vol.29
, pp. 51-57
-
-
Fan, H.C.1
-
17
-
-
35648976118
-
The diploid genome sequence of an individual human
-
Levy, S. et al. The diploid genome sequence of an individual human. PLoS Biol. 5, e254 (2007)
-
(2007)
PLoS Biol.
, vol.5
, pp. e254
-
-
Levy, S.1
-
18
-
-
84858386071
-
Fosmid-based whole genome haplotyping of a HapMap trio child: Evaluation of single individual haplotyping techniques
-
Duitama, J. et al. Fosmid-based whole genome haplotyping of a HapMap trio child: evaluation of single individual haplotyping techniques. Nucleic Acids Res. 40, 2041-2053 (2012)
-
(2012)
Nucleic Acids Res.
, vol.40
, pp. 2041-2053
-
-
Duitama, J.1
-
19
-
-
80053028550
-
A comprehensively molecular haplotype-resolved genome of a European individual
-
Suk, E.K. et al. A comprehensively molecular haplotype-resolved genome of a European individual. Genome Res. 21, 1672-1685 (2011)
-
(2011)
Genome Res.
, vol.21
, pp. 1672-1685
-
-
Suk, E.K.1
-
20
-
-
84883674186
-
On the design of clone-based haplotyping
-
Lo, C. et al. On the design of clone-based haplotyping. Genome Biol. 14, R100 (2013)
-
(2013)
Genome Biol.
, vol.14
, pp. R100
-
-
Lo, C.1
-
21
-
-
77956537708
-
A comparison of several algorithms for the single individual SNP haplotyping reconstruction problem
-
Geraci, F. A comparison of several algorithms for the single individual SNP haplotyping reconstruction problem. Bioinformatics 26, 2217-2225 (2010)
-
(2010)
Bioinformatics
, vol.26
, pp. 2217-2225
-
-
Geraci, F.1
-
22
-
-
79960070912
-
Preparation of next-generation sequencing libraries using Nextera technology: Simultaneous DNA fragmentation and adaptor tagging by in vitro transposition
-
Caruccio, N. Preparation of next-generation sequencing libraries using Nextera technology: simultaneous DNA fragmentation and adaptor tagging by in vitro transposition. Methods Mol. Biol. 733, 241-255 (2011)
-
(2011)
Methods Mol. Biol.
, vol.733
, pp. 241-255
-
-
Caruccio, N.1
-
23
-
-
78649773164
-
Rapid, low-input, low-bias construction of shotgun fragment libraries by high-density in vitro transposition
-
Adey, A. et al. Rapid, low-input, low-bias construction of shotgun fragment libraries by high-density in vitro transposition. Genome Biol. 11, R119 (2010)
-
(2010)
Genome Biol.
, vol.11
, pp. R119
-
-
Adey, A.1
-
24
-
-
67650047735
-
DNA Sudoku-harnessing high-throughput sequencing for multiplexed specimen analysis
-
Erlich, Y. et al. DNA Sudoku-harnessing high-throughput sequencing for multiplexed specimen analysis. Genome Res. 19, 1243-1253 (2009)
-
(2009)
Genome Res.
, vol.19
, pp. 1243-1253
-
-
Erlich, Y.1
-
26
-
-
84898654757
-
Whole-genome haplotyping using long reads and statistical methods
-
Kuleshov, V. et al. Whole-genome haplotyping using long reads and statistical methods. Nat. Biotechnol. 32, 261-266 (2014)
-
(2014)
Nat. Biotechnol.
, vol.32
, pp. 261-266
-
-
Kuleshov, V.1
-
27
-
-
84975742565
-
A map of human genome variation from population-scale sequencing
-
Abecasis, G.R. et al. A map of human genome variation from population-scale sequencing. Nature 467, 1061-1073 (2010)
-
(2010)
Nature
, vol.467
, pp. 1061-1073
-
-
Abecasis, G.R.1
-
28
-
-
79959725029
-
Variation in genome-wide mutation rates within and between human families
-
Conrad, D.F. et al. Variation in genome-wide mutation rates within and between human families. Nat. Genet. 43, 712-714 (2011)
-
(2011)
Nat. Genet.
, vol.43
, pp. 712-714
-
-
Conrad, D.F.1
-
29
-
-
84881094790
-
Filtering for compound heterozygous sequence variants in non-consanguineous pedigrees
-
Kamphans, T. et al. Filtering for compound heterozygous sequence variants in non-consanguineous pedigrees. PLoS ONE 8, e70151 (2013)
-
(2013)
PLoS ONE
, vol.8
, pp. e70151
-
-
Kamphans, T.1
-
30
-
-
55549089660
-
Accurate whole human genome sequencing using reversible terminator chemistry
-
Bentley, D.R. et al. Accurate whole human genome sequencing using reversible terminator chemistry. Nature 456, 53-59 (2008)
-
(2008)
Nature
, vol.456
, pp. 53-59
-
-
Bentley, D.R.1
-
31
-
-
79951534673
-
Strobe sequence design for haplotype assembly
-
Lo, C. et al. Strobe sequence design for haplotype assembly. BMC Bioinformatics 12 (suppl. 1), S24 (2011)
-
(2011)
BMC Bioinformatics
, vol.12
, pp. S24
-
-
Lo, C.1
-
32
-
-
0032738825
-
A microfabricated fluorescence-activated cell sorter
-
Fu, A.Y. et al. A microfabricated fluorescence-activated cell sorter. Nat. Biotechnol. 17, 1109-1111 (1999)
-
(1999)
Nat. Biotechnol.
, vol.17
, pp. 1109-1111
-
-
Fu, A.Y.1
-
33
-
-
77949798725
-
Multiplexed real-time polymerase chain reaction on a digital microfluidic platform
-
Hua, Z. et al. Multiplexed real-time polymerase chain reaction on a digital microfluidic platform. Anal. Chem. 82, 2310-2316 (2010)
-
(2010)
Anal. Chem.
, vol.82
, pp. 2310-2316
-
-
Hua, Z.1
-
34
-
-
84913548467
-
In vitro long-range sequence information for de novo genome assembly via transposase contiguity
-
19 October
-
Adey, A. et al. In vitro, long-range sequence information for de novo genome assembly via transposase contiguity. Genome Res. doi:10.1101/gr.178319.114 (19 October 2014)
-
(2014)
Genome Res.
-
-
Adey, A.1
-
35
-
-
67649884743
-
Fast and accurate short read alignment with Burrows-Wheeler transform
-
Li, H. & Durbin, R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 25, 1754-1760 (2009)
-
(2009)
Bioinformatics
, vol.25
, pp. 1754-1760
-
-
Li, H.1
Durbin, R.2
|