-
1
-
-
17344365851
-
Genetic Heterogeneity and Penetrance Analysis of the BRCA1 and BRCA2 Genes in Breast Cancer Families
-
doi:10.1086/301749
-
Ford D, Easton DF, Stratton M, Narod S, Goldgar D et al. (1998) Genetic Heterogeneity and Penetrance Analysis of the BRCA1 and BRCA2 Genes in Breast Cancer Families. American Journal of Human Genetics 62: 676-689. doi:10.1086/301749.
-
(1998)
American Journal of Human Genetics
, vol.62
, pp. 676-689
-
-
Ford, D.1
Easton, D.F.2
Stratton, M.3
Narod, S.4
Goldgar, D.5
-
2
-
-
33645100274
-
Large genomic deletions inactivate the BRCA2 gene in breast cancer families
-
doi:10.1136/jmg.2005.032789. PubMed: 16199546
-
Agata S, Dalla Palma M, Callegaro M, Scaini MC, Menin C et al. (2005) Large genomic deletions inactivate the BRCA2 gene in breast cancer families. J Med Genet 42: e64. doi:10.1136/jmg.2005.032789. PubMed: 16199546.
-
(2005)
J Med Genet
, vol.42
-
-
Agata, S.1
Dalla Palma, M.2
Callegaro, M.3
Scaini, M.C.4
Menin, C.5
-
3
-
-
0037380994
-
Large Genomic Deletions and Duplications in the BRCA1 Gene Identified by a Novel Quantitative
-
Hogervorst FBL, Nederlof PM, Gille JJP, McElgunn CJ, Grippeling M et al. (2003) Large Genomic Deletions and Duplications in the BRCA1 Gene Identified by a Novel Quantitative. Methods - Cancer Research 63: 1449-1453.
-
(2003)
Methods - Cancer Research
, vol.63
, pp. 1449-1453
-
-
Hogervorst, F.B.L.1
Nederlof, P.M.2
Gille, J.J.P.3
McElgunn, C.J.4
Grippeling, M.5
-
4
-
-
0038364017
-
Genomic rearrangements account for more than one-third of the BRCA1 mutations in northern Italian breast/ovarian cancer families
-
doi:10.1093/hmg/ddg120. PubMed: 12700174
-
Montagna M, Palma MD, Menin C, Agata S, De Nicolo A et al. (2003) Genomic rearrangements account for more than one-third of the BRCA1 mutations in northern Italian breast/ovarian cancer families. Hum Mol Genet 12: 1055-1061. doi:10.1093/hmg/ddg120. PubMed: 12700174.
-
(2003)
Hum Mol Genet
, vol.12
, pp. 1055-1061
-
-
Montagna, M.1
Palma, M.D.2
Menin, C.3
Agata, S.4
De Nicolo, A.5
-
5
-
-
52049088505
-
The Relative Contribution of Point Mutations and Genomic Rearrangements in BRCA1 and BRCA2 in High-Risk Breast Cancer Families
-
doi:10.1158/0008-5472.CAN-08-0599. PubMed: 18703817
-
Palma MD, Domchek SM, Stopfer J, Erlichman J, Siegfried JD et al. (2008) The Relative Contribution of Point Mutations and Genomic Rearrangements in BRCA1 and BRCA2 in High-Risk Breast Cancer Families. Cancer Res 68: 7006-7014. doi:10.1158/0008-5472.CAN-08-0599. PubMed: 18703817.
-
(2008)
Cancer Res
, vol.68
, pp. 7006-7014
-
-
Palma, M.D.1
Domchek, S.M.2
Stopfer, J.3
Erlichman, J.4
Siegfried, J.D.5
-
6
-
-
33645106126
-
Large genomic rearrangements of both BRCA2 and BRCA1 are a feature of the inherited breast/ovarian cancer phenotype in selected families
-
doi:10.1136/jmg.2004.027961. PubMed: 15863663
-
Woodward AM, Davis TA, Silva AGS, Kirk JA, Leary JA (2005) Large genomic rearrangements of both BRCA2 and BRCA1 are a feature of the inherited breast/ovarian cancer phenotype in selected families. J Med Genet 42: e31. doi:10.1136/jmg.2004.027961. PubMed: 15863663.
-
(2005)
J Med Genet
, vol.42
-
-
Woodward, A.M.1
Davis, T.A.2
Silva, A.G.S.3
Kirk, J.A.4
Leary, J.A.5
-
7
-
-
79955004110
-
Detecting structural variations in the human genome using next generation sequencing
-
doi:10.1093/bfgp/elq025. PubMed: 21216738
-
Xi R, Kim T-M, Park PJ (2010) Detecting structural variations in the human genome using next generation sequencing. Brief Funct Genomics 9: 405-415. doi:10.1093/bfgp/elq025. PubMed: 21216738.
-
(2010)
Brief Funct Genomics
, vol.9
, pp. 405-415
-
-
Xi, R.1
Kim, T.-M.2
Park, P.J.3
-
8
-
-
79951970227
-
CNVnator: An approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing
-
doi:10.1101/gr.114876.110. PubMed: 21324876
-
Abyzov A, Urban AE, Snyder M, Gerstein M (2011) CNVnator: An approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing. Genome Res 21: 974-984. doi:10.1101/gr.114876.110. PubMed: 21324876.
-
(2011)
Genome Res
, vol.21
, pp. 974-984
-
-
Abyzov, A.1
Urban, A.E.2
Snyder, M.3
Gerstein, M.4
-
9
-
-
69549116107
-
BreakDancer: An algorithm for high-resolution mapping of genomic structural variation
-
doi:10.1038/nmeth.1363. PubMed: 19668202
-
Chen K, Wallis JW, McLellan MD, Larson DE, Kalicki JM et al. (2009) BreakDancer: an algorithm for high-resolution mapping of genomic structural variation. Nat Methods 6: 677-681. doi:10.1038/nmeth.1363. PubMed: 19668202.
-
(2009)
Nat Methods
, vol.6
, pp. 677-681
-
-
Chen, K.1
Wallis, J.W.2
McLellan, M.D.3
Larson, D.E.4
Kalicki, J.M.5
-
10
-
-
77951860138
-
Genome-wide mapping and assembly of structural variant breakpoints in the mouse genome
-
doi:10.1101/gr.102970.109. PubMed: 20308636
-
Quinlan AR, Clark RA, Sokolova S, Leibowitz ML, Zhang Y et al. (2010) Genome-wide mapping and assembly of structural variant breakpoints in the mouse genome. Genome Res 20: 623-635. doi:10.1101/gr.102970.109. PubMed: 20308636.
-
(2010)
Genome Res
, vol.20
, pp. 623-635
-
-
Quinlan, A.R.1
Clark, R.A.2
Sokolova, S.3
Leibowitz, M.L.4
Zhang, Y.5
-
11
-
-
84856409929
-
Detection of structural variants and indels within exome data
-
PubMed: 22179552
-
Karakoc E, Alkan C, O'Roak BJ, Dennis MY, Vives L et al. (2012) Detection of structural variants and indels within exome data. Nat Methods 9: 176-178. PubMed: 22179552.
-
(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
-
12
-
-
79961007031
-
CREST maps somatic structural variation in cancer genomes with base-pair resolution
-
doi:10.1038/nmeth.1628. PubMed: 21666668
-
Wang J, Mullighan CG, Easton J, Roberts S, Heatley SL et al. (2011) CREST maps somatic structural variation in cancer genomes with base-pair resolution. Nat Methods 8: 652-654. doi:10.1038/nmeth.1628. PubMed: 21666668.
-
(2011)
Nat Methods
, vol.8
, pp. 652-654
-
-
Wang, J.1
Mullighan, C.G.2
Easton, J.3
Roberts, S.4
Heatley, S.L.5
-
13
-
-
82255164279
-
SVseq: An approach for detecting exact breakpoints of deletions with low-coverage sequence data
-
doi:10.1093/bioinformatics/btr563. PubMed: 21994222
-
Zhang J, Wu Y (2011) SVseq: an approach for detecting exact breakpoints of deletions with low-coverage sequence data. Bioinformatics 27: 3228-3234. doi:10.1093/bioinformatics/btr563. PubMed: 21994222.
-
(2011)
Bioinformatics
, vol.27
, pp. 3228-3234
-
-
Zhang, J.1
Wu, Y.2
-
14
-
-
84870460670
-
PRISM: Pair read informed split read mapping for base-pair level detection of insertion, deletion and structural variants
-
Jiang Y, Wang Y, Brudno M (2012) PRISM: Pair read informed split read mapping for base-pair level detection of insertion, deletion and structural variants. Bioinformatics.
-
(2012)
Bioinformatics
-
-
Jiang, Y.1
Wang, Y.2
Brudno, M.3
-
15
-
-
84866440781
-
DELLY: Structural variant discovery by integrated paired-end and split-read analysis
-
doi:10.1093/bioinformatics/bts378. PubMed: 22962449
-
Rausch T, Zichner T, Schlattl A, Stütz AM, Benes V et al. (2012) DELLY: structural variant discovery by integrated paired-end and split-read analysis. Bioinformatics 28: i333-i339. doi:10.1093/bioinformatics/bts378. PubMed: 22962449.
-
(2012)
Bioinformatics
, vol.28
-
-
Rausch, T.1
Zichner, T.2
Schlattl, A.3
Stütz, A.M.4
Benes, V.5
-
16
-
-
68549104404
-
The Sequence Alignment/Map format and SAMtools
-
doi:10.1093/bioinformatics/btp352. PubMed: 19505943
-
Li H, Handsaker B, Wysoker A, Fennell T, Ruan J et al. (2009) The Sequence Alignment/Map format and SAMtools. Bioinformatics 25: 2078-2079. doi:10.1093/bioinformatics/btp352. PubMed: 19505943.
-
(2009)
Bioinformatics
, vol.25
, pp. 2078-2079
-
-
Li, H.1
Handsaker, B.2
Wysoker, A.3
Fennell, T.4
Ruan, J.5
-
17
-
-
77951770756
-
BEDTools: A flexible suite of utilities for comparing genomic features
-
doi:10.1093/bioinformatics/btq033. PubMed: 20110278
-
Quinlan AR, Hall IM (2010) BEDTools: a flexible suite of utilities for comparing genomic features. Bioinformatics 26: 841-842. doi:10.1093/ bioinformatics/btq033. PubMed: 20110278.
-
(2010)
Bioinformatics
, vol.26
, pp. 841-842
-
-
Quinlan, A.R.1
Hall, I.M.2
-
18
-
-
84975804424
-
Mapping copy number variation by population-scale genome sequencing
-
doi:10.1038/nature09708. PubMed: 21293372
-
Mills RE, Walter K, Stewart C, Handsaker RE, Chen K et al. (2011) Mapping copy number variation by population-scale genome sequencing. Nature 470: 59-65. doi:10.1038/nature09708. PubMed: 21293372.
-
(2011)
Nature
, vol.470
, pp. 59-65
-
-
Mills, R.E.1
Walter, K.2
Stewart, C.3
Handsaker, R.E.4
Chen, K.5
-
19
-
-
69549116107
-
BreakDancer: An algorithm for high-resolution mapping of genomic structural variation
-
doi:10.1038/nmeth.1363. PubMed: 19668202
-
Chen K, Wallis JW, McLellan MD, Larson DE, Kalicki JM et al. (2009) BreakDancer: an algorithm for high-resolution mapping of genomic structural variation. Nat Methods 6: 677-681. doi:10.1038/nmeth.1363. PubMed: 19668202.
-
(2009)
Nat Methods
, vol.6
, pp. 677-681
-
-
Chen, K.1
Wallis, J.W.2
McLellan, M.D.3
Larson, D.E.4
Kalicki, J.M.5
|