-
1
-
-
79952200485
-
Small insertions and deletions (indels) in human genomes
-
Mullaney JM, Mills RE, Pittard WS, Devine SE: Small insertions and deletions (INDELs) in human genomes. Hum Mol Genet 2010, 19:R131-R136.
-
(2010)
Hum Mol Genet
, vol.19
, pp. R131-R136
-
-
Mullaney, J.M.1
Mills, R.E.2
Pittard, W.S.3
Devine, S.E.4
-
2
-
-
33748271469
-
An initial map of insertion and deletion (indel) variation in the human genome
-
Mills RE, Luttig CT, Larkins CE, Beauchamp A, Tsui C, Pittard WS, Devine SE: An initial map of insertion and deletion (INDEL) variation in the human genome. Genome Res 2006, 16:1182-1190.
-
(2006)
Genome Res
, vol.16
, pp. 1182-1190
-
-
Mills, R.E.1
Luttig, C.T.2
Larkins, C.E.3
Beauchamp, A.4
Tsui, C.5
Pittard, W.S.6
Devine, S.E.7
-
3
-
-
55549089660
-
Accurate whole human genome sequencing using reversible terminator chemistry
-
Bentley DR, Balasubramanian S, Swerdlow HP, Smith GP, Milton J, Brown CG, Hall KP, Evers DJ, Barnes CL, Bignell HR, Boutell JM, Bryant J, Carter RJ, Keira Cheetham R, Cox AJ, Ellis DJ, Flatbush MR, Gormley NA, Humphray SJ, Irving LJ, Karbelashvili MS, Kirk SM, Li H, Liu X, Maisinger KS, Murray LJ, Obradovic B, Ost T, Parkinson ML, Pratt MR, et al: Accurate whole human genome sequencing using reversible terminator chemistry. Nature 2008, 456:53-59.
-
(2008)
Nature
, vol.456
, pp. 53-59
-
-
Bentley, D.R.1
Balasubramanian, S.2
Swerdlow, H.P.3
Smith, G.P.4
Milton, J.5
Brown, C.G.6
Hall, K.P.7
Evers, D.J.8
Barnes, C.L.9
Bignell, H.R.10
Boutell, J.M.11
Bryant, J.12
Carter, R.J.13
Keira Cheetham, R.14
Cox, A.J.15
Ellis, D.J.16
Flatbush, M.R.17
Gormley, N.A.18
Humphray, S.J.19
Irving, L.J.20
Karbelashvili, M.S.21
Kirk, S.M.22
Li, H.23
Liu, X.24
Maisinger, K.S.25
Murray, L.J.26
Obradovic, B.27
Ost, T.28
Parkinson, M.L.29
Pratt, M.R.30
more..
-
4
-
-
55549097849
-
The diploid genome sequence of an asian individual
-
Wang J, Wang W, Li R, Li Y, Tian G, Goodman L, Fan W, Zhang J, Li J, Zhang J, Guo Y, Feng B, Li H, Lu Y, Fang X, Liang H, Du Z, Li D, Zhao Y, Hu Y, Yang Z, Zheng H, Hellmann I, Inouye M, Pool J, Yi X, Zhao J, Duan J, Zhou Y, Qin J, et al: The diploid genome sequence of an Asian individual. Nature 2008, 456:60-65.
-
(2008)
Nature
, vol.456
, pp. 60-65
-
-
Wang, J.1
Wang, W.2
Li, R.3
Li, Y.4
Tian, G.5
Goodman, L.6
Fan, W.7
Zhang, J.8
Li, J.9
Zhang, J.10
Guo, Y.11
Feng, B.12
Li, H.13
Lu, Y.14
Fang, X.15
Liang, H.16
Du, Z.17
Li, D.18
Zhao, Y.19
Hu, Y.20
Yang, Z.21
Zheng, H.22
Hellmann, I.23
Inouye, M.24
Pool, J.25
Yi, X.26
Zhao, J.27
Duan, J.28
Zhou, Y.29
Qin, J.30
more..
-
5
-
-
84900537480
-
Exome sequencing identifies a novel mutation in pik3r1 as the cause of short syndrome
-
Bárcena C, Quesada V, De Sandre-Giovannoli A, Puente DA, Fernández-Toral J, Sigaudy S, Baban A, Lévy N, Velasco G, López-Otín C: Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome. BMC Med Genet 2014, 15:51.
-
(2014)
BMC Med Genet
, vol.15
, pp. 51
-
-
Bárcena, C.1
Quesada, V.2
De Sandre-Giovannoli, A.3
Puente, D.A.4
Fernández-Toral, J.5
Sigaudy, S.6
Baban, A.7
Lévy, N.8
Velasco, G.9
López-Otín, C.10
-
6
-
-
0028267736
-
A deletion of 1.6 kb proximal to the cgg repeat of the fmr1 gene causes the clinical phenotype of the fragile x syndrome
-
Meijer H, de Graaff E, Merckx DM, Jongbloed RJ, de Die-Smulders CE, Engelen JJ, Fryns JP, Curfs PM, Oostra BA: A deletion of 1.6 kb proximal to the CGG repeat of the FMR1 gene causes the clinical phenotype of the fragile X syndrome. Hum Mol Genet 1994, 3:615-620.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 615-620
-
-
Meijer, H.1
De Graaff, E.2
Merckx, D.M.3
Jongbloed, R.J.4
De Die-Smulders, C.E.5
Engelen, J.J.6
Fryns, J.P.7
Curfs, P.M.8
Oostra, B.A.9
-
7
-
-
1542635123
-
A lrpap1 intronic insertion/deletion polymorphism and phenotypic variability in Alzheimer disease
-
discussion 335-338
-
Schutte DL, Maas M, Buckwalter KC: A LRPAP1 intronic insertion/deletion polymorphism and phenotypic variability in Alzheimer disease. Res Theory Nurs Pract 2003, 17:301-319. discussion 335-338.
-
(2003)
Res Theory Nurs Pract
, vol.17
, pp. 301-319
-
-
Schutte, D.L.1
Maas, M.2
Buckwalter, K.C.3
-
8
-
-
84899964765
-
Impact of human pathogenic micro-insertions and micro-deletions on post-transcriptional regulation
-
Zhang X, Lin H, Zhao H, Hao Y, Mort M, Cooper DN, Zhou Y, Liu Y: Impact of human pathogenic micro-insertions and micro-deletions on post-transcriptional regulation. Hum Mol Genet 2014, 23:3024-3034.
-
(2014)
Hum Mol Genet
, vol.23
, pp. 3024-3034
-
-
Zhang, X.1
Lin, H.2
Zhao, H.3
Hao, Y.4
Mort, M.5
Cooper, D.N.6
Zhou, Y.7
Liu, Y.8
-
9
-
-
79957932376
-
Dindel: Accurate indel calls from short-read data
-
Albers CA, Lunter G, MacArthur DG, McVean G, Ouwehand WH, Durbin R: Dindel: accurate indel calls from short-read data. Genome Res 2011, 21:961-973.
-
(2011)
Genome Res
, vol.21
, pp. 961-973
-
-
Albers, C.A.1
Lunter, G.2
MacArthur, D.G.3
McVean, G.4
Ouwehand, W.H.5
Durbin, R.6
-
10
-
-
84921850275
-
Reducing indel calling errors in whole genome and exome sequencing data
-
Fang H, Wu Y, Narzisi G, O'Rawe JA, Barron LTJ, Rosenbaum J, Ronemus M, Iossifov I, Schatz MC, Lyon GJ: Reducing INDEL calling errors in whole genome and exome sequencing data. Genome Med 2014, 6:89.
-
(2014)
Genome Med
, vol.6
, pp. 89
-
-
Fang, H.1
Wu, Y.2
Narzisi, G.3
O'Rawe, J.A.4
Barron, L.T.J.5
Rosenbaum, J.6
Ronemus, M.7
Iossifov, I.8
Schatz, M.C.9
Lyon, G.J.10
-
11
-
-
0345306317
-
Patterns of nucleotide substitution, insertion and deletion in the human genome inferred from pseudogenes
-
Zhang Z, Gerstein M: Patterns of nucleotide substitution, insertion and deletion in the human genome inferred from pseudogenes. Nucleic Acids Res 2003, 31:5338-5348.
-
(2003)
Nucleic Acids Res
, vol.31
, pp. 5338-5348
-
-
Zhang, Z.1
Gerstein, M.2
-
12
-
-
79957967458
-
Natural genetic variation caused by small insertions and deletions in the human genome
-
Mills RE, Pittard WS, Mullaney JM, Farooq U, Creasy TH, Mahurkar AA, Kemeza DM, Strassler DS, Ponting CP, Webber C, Devine SE: Natural genetic variation caused by small insertions and deletions in the human genome. Genome Res 2011, 21:830-839.
-
(2011)
Genome Res
, vol.21
, pp. 830-839
-
-
Mills, R.E.1
Pittard, W.S.2
Mullaney, J.M.3
Farooq, U.4
Creasy, T.H.5
Mahurkar, A.A.6
Kemeza, D.M.7
Strassler, D.S.8
Ponting, C.P.9
Webber, C.10
Devine, S.E.11
-
13
-
-
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, Kernytsky A, Garimella K, Altshuler D, Gabriel S, Daly M, DePristo MA: The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res 2010, 20:1297-1303.
-
(2010)
Genome Res
, vol.20
, pp. 1297-1303
-
-
McKenna, A.1
Hanna, M.2
Banks, E.3
Sivachenko, A.4
Cibulskis, K.5
Kernytsky, A.6
Garimella, K.7
Altshuler, D.8
Gabriel, S.9
Daly, M.10
DePristo, M.A.11
-
14
-
-
84907700204
-
Identification and validation of loss of function variants in clinical contexts
-
Lescai F, Marasco E, Bacchelli C, Stanier P, Mantovani V, Beales P: Identification and validation of loss of function variants in clinical contexts. Mol Genet Genomic Med 2014, 2:58-63.
-
(2014)
Mol Genet Genomic Med
, vol.2
, pp. 58-63
-
-
Lescai, F.1
Marasco, E.2
Bacchelli, C.3
Stanier, P.4
Mantovani, V.5
Beales, P.6
-
15
-
-
84872814731
-
Analysis of insertion-deletion from deep-sequencing data: Software evaluation for optimal detection
-
Neuman JA, Isakov O, Shomron N: Analysis of insertion-deletion from deep-sequencing data: software evaluation for optimal detection. Brief Bioinform 2013, 14:46-55.
-
(2013)
Brief Bioinform
, vol.14
, pp. 46-55
-
-
Neuman, J.A.1
Isakov, O.2
Shomron, N.3
-
16
-
-
70350694443
-
Pindel: A pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads
-
Ye K, Schulz MH, Long Q, Apweiler R, Ning Z: Pindel: a pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads. Bioinforma Oxf Engl 2009, 25:2865-2871.
-
(2009)
Bioinforma Oxf Engl
, vol.25
, pp. 2865-2871
-
-
Ye, K.1
Schulz, M.H.2
Long, Q.3
Apweiler, R.4
Ning, Z.5
-
17
-
-
84871988179
-
Soapindel: Efficient identification of indels from short paired reads
-
Li S, Li R, Li H, Lu J, Li Y, Bolund L, Schierup MH, Wang J: SOAPindel: efficient identification of indels from short paired reads. Genome Res 2013, 23:195-200.
-
(2013)
Genome Res
, vol.23
, pp. 195-200
-
-
Li, S.1
Li, R.2
Li, H.3
Lu, J.4
Li, Y.5
Bolund, L.6
Schierup, M.H.7
Wang, J.8
-
18
-
-
84874730465
-
Clipcrop: A tool for detecting structural variations with single-base resolution using soft-clipping information
-
Suzuki S, Yasuda T, Shiraishi Y, Miyano S, Nagasaki M: ClipCrop: a tool for detecting structural variations with single-base resolution using soft-clipping information. BMC Bioinformatics 2011, 12(Suppl 14):S7.
-
(2011)
BMC Bioinformatics
, vol.12
, pp. S7
-
-
Suzuki, S.1
Yasuda, T.2
Shiraishi, Y.3
Miyano, S.4
Nagasaki, M.5
-
19
-
-
84893840600
-
Understanding the limitations of next generation sequencing informatics, an approach to clinical pipeline validation using artificial data sets
-
Daber R, Sukhadia S, Morrissette JJD: Understanding the limitations of next generation sequencing informatics, an approach to clinical pipeline validation using artificial data sets. Cancer Genet 2013, 206:441-448.
-
(2013)
Cancer Genet
, vol.206
, pp. 441-448
-
-
Daber, R.1
Sukhadia, S.2
Morrissette, J.J.D.3
-
20
-
-
84856409929
-
Detection of structural variants and indels within exome data
-
Karakoc E, Alkan C, O'Roak BJ, Dennis MY, Vives L, Mark K, Rieder MJ, Nickerson DA, Eichler EE: Detection of structural variants and indels within exome data. Nat Methods 2012, 9:176-178.
-
(2012)
Nat Methods
, vol.9
, pp. 176-178
-
-
Karakoc, E.1
Alkan, C.2
O'Roak, B.J.3
Dennis, M.Y.4
Vives, L.5
Mark, K.6
Rieder, M.J.7
Nickerson, D.A.8
Eichler, E.E.9
-
21
-
-
84989301139
-
-
version 2.3-9 [
-
The GATK Guidebook version 2.3-9 [http://www.broadinstitute.org/gatk/pdfdocs/GATK-GuideBook-2.3-9.pdf].
-
The GATK Guidebook
-
-
-
22
-
-
77951939888
-
Microindel detection in short-read sequence data
-
Krawitz P, Rödelsperger C, Jäger M, Jostins L, Bauer S, Robinson PN: Microindel detection in short-read sequence data. Bioinforma Oxf Engl 2010, 26:722-729.
-
(2010)
Bioinforma Oxf Engl
, vol.26
, pp. 722-729
-
-
Krawitz, P.1
Rödelsperger, C.2
Jäger, M.3
Jostins, L.4
Bauer, S.5
Robinson, P.N.6
-
23
-
-
84905576523
-
Wgs500 consortium, wilkie aom, mcvean g, lunter g: Integrating mapping-, assembly-And haplotype-based approaches for calling variants in clinical sequencing applications
-
Rimmer A, Phan H, Mathieson I, Iqbal Z, Twigg SRF, WGS500 Consortium, Wilkie AOM, McVean G, Lunter G: Integrating mapping-, assembly-And haplotype-based approaches for calling variants in clinical sequencing applications. Nat Genet 2014, 46:912-918.
-
(2014)
Nat Genet
, vol.46
, pp. 912-918
-
-
Rimmer, A.1
Phan, H.2
Mathieson, I.3
Iqbal, Z.4
Twigg, S.R.F.5
|