-
1
-
-
84896959827
-
Cancer genomics and inherited risk
-
Stadler ZK, Schrader KA, Vijai J, Robson ME, Offit K. Cancer genomics and inherited risk. J Clin Oncol. 2014;32(7):687-98. doi:10.1200/JCO.2013.49.7271.
-
(2014)
J Clin Oncol
, vol.32
, Issue.7
, pp. 687-698
-
-
Stadler, Z.K.1
Schrader, K.A.2
Vijai, J.3
Robson, M.E.4
Offit, K.5
-
2
-
-
84892607343
-
Realizing the promise of cancer predisposition genes
-
Rahman N. Realizing the promise of cancer predisposition genes. Nature. 2014;505(7483):302-8. doi:10.1038/nature12981.
-
(2014)
Nature
, vol.505
, Issue.7483
, pp. 302-308
-
-
Rahman, N.1
-
3
-
-
84906100695
-
Mainstreaming genetic testing of cancer predisposition genes
-
Rahman N. Mainstreaming genetic testing of cancer predisposition genes. Clin Med. 2014;14(4):436-9. doi:10.7861/clinmedicine.14-4-436.
-
(2014)
Clin Med
, vol.14
, Issue.4
, pp. 436-439
-
-
Rahman, N.1
-
4
-
-
81055126264
-
Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing
-
Walsh T, Casadei S, Lee MK, Pennil CC, Nord AS, Thornton AM, et al. Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. Proc Natl Acad Sci U S A. 2011;108(44):18032-7. doi:10.1073/pnas.1115052108.
-
(2011)
Proc Natl Acad Sci U S A
, vol.108
, Issue.44
, pp. 18032-18037
-
-
Walsh, T.1
Casadei, S.2
Lee, M.K.3
Pennil, C.C.4
Nord, A.S.5
Thornton, A.M.6
-
5
-
-
77955439715
-
Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing
-
Walsh T, Lee MK, Casadei S, Thornton AM, Stray SM, Pennil C, et al. Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing. Proc Natl Acad Sci U S A. 2010;107(28):12629-33. doi:10.1073/pnas.1007983107.
-
(2010)
Proc Natl Acad Sci U S A
, vol.107
, Issue.28
, pp. 12629-12633
-
-
Walsh, T.1
Lee, M.K.2
Casadei, S.3
Thornton, A.M.4
Stray, S.M.5
Pennil, C.6
-
6
-
-
84862651279
-
ColoSeq provides comprehensive lynch and polyposis syndrome mutational analysis using massively parallel sequencing
-
Pritchard CC, Smith C, Salipante SJ, Lee MK, Thornton AM, Nord AS, et al. ColoSeq provides comprehensive lynch and polyposis syndrome mutational analysis using massively parallel sequencing. J Mol Diagn. 2012;14(4):357-66. doi:10.1016/j.jmoldx.2012.03.002.
-
(2012)
J Mol Diagn
, vol.14
, Issue.4
, pp. 357-366
-
-
Pritchard, C.C.1
Smith, C.2
Salipante, S.J.3
Lee, M.K.4
Thornton, A.M.5
Nord, A.S.6
-
7
-
-
84922628243
-
Next-generation sequencing of the BRCA1 and BRCA2 genes for the genetic diagnostics of hereditary breast and/or ovarian cancer
-
Trujillano D, Weiss ME, Schneider J, Koster J, Papachristos EB, Saviouk V, et al. Next-generation sequencing of the BRCA1 and BRCA2 genes for the genetic diagnostics of hereditary breast and/or ovarian cancer. J Mol Diagn. 2015;17(2):162-70. doi:10.1016/j.jmoldx.2014.11.004.
-
(2015)
J Mol Diagn
, vol.17
, Issue.2
, pp. 162-170
-
-
Trujillano, D.1
Weiss, M.E.2
Schneider, J.3
Koster, J.4
Papachristos, E.B.5
Saviouk, V.6
-
8
-
-
84865070623
-
Long-range PCR and next-generation sequencing of BRCA1 and BRCA2 in breast cancer
-
Ozcelik H, Shi X, Chang MC, Tram E, Vlasschaert M, Di Nicola N, et al. Long-range PCR and next-generation sequencing of BRCA1 and BRCA2 in breast cancer. J Mol Diagn. 2012;14(5):467-75. doi:10.1016/j.jmoldx.2012.03.006.
-
(2012)
J Mol Diagn
, vol.14
, Issue.5
, pp. 467-475
-
-
Ozcelik, H.1
Shi, X.2
Chang, M.C.3
Tram, E.4
Vlasschaert, M.5
Di Nicola, N.6
-
9
-
-
84928105158
-
MSK-IMPACT: a hybridization capture-based next-generation sequencing clinical assay for solid tumor molecular oncology
-
25801821
-
Cheng DT, Mitchell T, Zehir A, Shah RH, Benayed R, Syed A, et al. MSK-IMPACT: a hybridization capture-based next-generation sequencing clinical assay for solid tumor molecular oncology. J Mol Diagn. 2015. doi:10.1016/j.jmoldx.2014.12.006.
-
(2015)
J Mol Diagn
-
-
Cheng, D.T.1
Mitchell, T.2
Zehir, A.3
Shah, R.H.4
Benayed, R.5
Syed, A.6
-
10
-
-
84874025843
-
Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples
-
Cibulskis K, Lawrence MS, Carter SL, Sivachenko A, Jaffe D, Sougnez C, et al. Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples. Nat Biotechnol. 2013;31(3):213-9. doi:10.1038/nbt.2514.
-
(2013)
Nat Biotechnol
, vol.31
, Issue.3
, pp. 213-219
-
-
Cibulskis, K.1
Lawrence, M.S.2
Carter, S.L.3
Sivachenko, A.4
Jaffe, D.5
Sougnez, C.6
-
11
-
-
84866440781
-
DELLY: structural variant discovery by integrated paired-end and split-read analysis
-
Rausch T, Zichner T, Schlattl A, Stutz AM, Benes V, Korbel JO. DELLY: structural variant discovery by integrated paired-end and split-read analysis. Bioinformatics. 2012;28(18):i333-9. doi:10.1093/bioinformatics/bts378.
-
(2012)
Bioinformatics
, vol.28
, Issue.18
, pp. i333-9
-
-
Rausch, T.1
Zichner, T.2
Schlattl, A.3
Stutz, A.M.4
Benes, V.5
Korbel, J.O.6
-
12
-
-
77956534324
-
ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
-
Wang K, Li M, Hakonarson H. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res. 2010;38(16):e164. doi:10.1093/nar/gkq603.
-
(2010)
Nucleic Acids Res
, vol.38
, Issue.16
, pp. e164
-
-
Wang, K.1
Li, M.2
Hakonarson, H.3
-
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, et al. The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res. 2010;20(9):1297-303. doi:10.1101/gr.107524.110.
-
(2010)
Genome Res
, vol.20
, Issue.9
, pp. 1297-1303
-
-
McKenna, A.1
Hanna, M.2
Banks, E.3
Sivachenko, A.4
Cibulskis, K.5
Kernytsky, A.6
-
14
-
-
84891809093
-
ClinVar: public archive of relationships among sequence variation and human phenotype
-
Landrum MJ, Lee JM, Riley GR, Jang W, Rubinstein WS, Church DM, et al. ClinVar: public archive of relationships among sequence variation and human phenotype. Nucleic Acids Res. 2014;42(Database issue):D980-5. doi:10.1093/nar/gkt1113.
-
(2014)
Nucleic Acids Res
, vol.42
, Issue.Database issue
, pp. D980-D985
-
-
Landrum, M.J.1
Lee, J.M.2
Riley, G.R.3
Jang, W.4
Rubinstein, W.S.5
Church, D.M.6
-
15
-
-
0035173378
-
dbSNP: the NCBI database of genetic variation
-
1:CAS:528:DC%2BD3MXjtlWmtb0%3D 11125122 29783
-
Sherry ST, Ward MH, Kholodov M, Baker J, Phan L, Smigielski EM, et al. dbSNP: the NCBI database of genetic variation. Nucleic Acids Res. 2001;29(1):308-11.
-
(2001)
Nucleic Acids Res
, vol.29
, Issue.1
, pp. 308-311
-
-
Sherry, S.T.1
Ward, M.H.2
Kholodov, M.3
Baker, J.4
Phan, L.5
Smigielski, E.M.6
-
16
-
-
84975795680
-
An integrated map of genetic variation from 1,092 human genomes
-
Abecasis GR, Auton A, Brooks LD, DePristo MA, Durbin RM, Handsaker RE, et al. An integrated map of genetic variation from 1,092 human genomes. Nature. 2012;491(7422):56-65. doi:10.1038/nature11632.
-
(2012)
Nature
, vol.491
, Issue.7422
, pp. 56-65
-
-
Abecasis, G.R.1
Auton, A.2
Brooks, L.D.3
DePristo, M.A.4
Durbin, R.M.5
Handsaker, R.E.6
-
17
-
-
84863556835
-
Evolution and functional impact of rare coding variation from deep sequencing of human exomes
-
Tennessen JA, Bigham AW, O’Connor TD, Fu W, Kenny EE, Gravel S, et al. Evolution and functional impact of rare coding variation from deep sequencing of human exomes. Science. 2012;337(6090):64-9. doi:10.1126/science.1219240.
-
(2012)
Science
, vol.337
, Issue.6090
, pp. 64-69
-
-
Tennessen, J.A.1
Bigham, A.W.2
O’Connor, T.D.3
Fu, W.4
Kenny, E.E.5
Gravel, S.6
-
18
-
-
84928209346
-
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
-
4544753
-
Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015. doi:10.1038/gim.2015.30.
-
(2015)
Genet Med
-
-
Richards, S.1
Aziz, N.2
Bale, S.3
Bick, D.4
Das, S.5
Gastier-Foster, J.6
-
19
-
-
84973444882
-
Germline variants in targeted tumor sequencing using matched normal DNA
-
26556299
-
Schrader KA, Cheng DT, Joseph V, Prasad M, Walsh M, Zehir A. Germline variants in targeted tumor sequencing using matched normal DNA. JAMA Oncol. 2016;2(1):104-11.
-
(2016)
JAMA Oncol
, vol.2
, Issue.1
, pp. 104-111
-
-
Schrader, K.A.1
Cheng, D.T.2
Joseph, V.3
Prasad, M.4
Walsh, M.5
Zehir, A.6
-
20
-
-
84880535720
-
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing
-
Green RC, Berg JS, Grody WW, Kalia SS, Korf BR, Martin CL, et al. ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet Med. 2013;15(7):565-74. doi:10.1038/gim.2013.73.
-
(2013)
Genet Med
, vol.15
, Issue.7
, pp. 565-574
-
-
Green, R.C.1
Berg, J.S.2
Grody, W.W.3
Kalia, S.S.4
Korf, B.R.5
Martin, C.L.6
-
21
-
-
84928248330
-
Personalized genomic analyses for cancer mutation discovery and interpretation
-
Jones S, Anagnostou V, Lytle K, Parpart-Li S, Nesselbush M, Riley DR, et al. Personalized genomic analyses for cancer mutation discovery and interpretation. Sci Transl Med. 2015;7(283):283ra53. doi:10.1126/scitranslmed.aaa7161.
-
(2015)
Sci Transl Med
, vol.7
, Issue.283
, pp. 283ra53
-
-
Jones, S.1
Anagnostou, V.2
Lytle, K.3
Parpart-Li, S.4
Nesselbush, M.5
Riley, D.R.6
|