References
- Abecasis GR, Altshuler D, Auton A, et al (2010). A map of human genome variation from population-scale sequencing. Nature, 467, 1061-73. https://doi.org/10.1038/nature09534
- Albert TJ, Molla MN, Muzny DM, et al (2007). Direct selection of human genomic loci by microarray hybridization. Nat Methods, 4, 903-5. https://doi.org/10.1038/nmeth1111
- Chan M, Ji SM, Yeo ZX, et al (2012). Development of a next-generation sequencing method for BRCA mutation screening: a comparison between a high-throughput and a benchtop platform. J Mol Diagn, 14, 602-12. https://doi.org/10.1016/j.jmoldx.2012.06.003
- De Leeneer K, Hellemans J, De Schrijver J, et al (2011). Massive parallel amplicon sequencing of the breast cancer genes BRCA1 and BRCA2: opportunities, challenges, and limitations. Hum Mutat, 32, 335-44. https://doi.org/10.1002/humu.21428
-
Diego S (2014). Entire document and oligonucleotide
$sequences^{(c)}$ 2007-2013 Illumina, Inc. All rights reserved. 1-28 - Euhus DM, Smith KC, Robinson L, et al (2002). Pretest prediction of BRCA1 or BRCA2 mutation by risk counselors and the computer model BRCAPRO. J Natl Cancer Inst, 94, 844-51. https://doi.org/10.1093/jnci/94.11.844
- Feliubadalo L, Lopez-Doriga A, Castellsague E, et al (2013). Next-generation sequencing meets genetic diagnostics: development of a comprehensive workflow for the analysis of BRCA1 and BRCA2 genes. Eur J Hum Genet, 21, 864-70. https://doi.org/10.1038/ejhg.2012.270
- Garrison E, Marth G (2012). Haplotype-based variant detection from short-read sequencing. 1-9
- Gnirke A, Melnikov A, Maguire J, et al (2009). Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing. Nat Biotechnol, 27, 182-9. https://doi.org/10.1038/nbt.1523
- Hernan I, Borras E, de Sousa Dias M, et al (2012). Detection of genomic variations in BRCA1 and BRCA2 genes by long-range PCR and next-generation sequencing. J Mol Diagn, 14, 286-93. https://doi.org/10.1016/j.jmoldx.2012.01.013
- Johansson H, Isaksson M, Sorqvist EF, et al (2011). Targeted resequencing of candidate genes using selector probes. Nucleic Acids Res, 39, 8.
- King M-C, Marks JH, Mandell JB (2003). Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2. Science, 302, 643-6. https://doi.org/10.1126/science.1088759
- Kumar P, Henikoff S, Ng PC (2009). Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc, 4, 1073-81. https://doi.org/10.1038/nprot.2009.86
- Li H, Durbin R (2009). Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics, 25, 1754-60. https://doi.org/10.1093/bioinformatics/btp324
- Li H, Handsaker B, Wysoker A, Fennell T, et al (2009). The Sequence Alignment/Map format and SAMtools. Bioinformatics, 25, 2078-9. https://doi.org/10.1093/bioinformatics/btp352
- McKenna A, Hanna M, Banks E, et al (2010). The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res, 20, 1297-303. https://doi.org/10.1101/gr.107524.110
- Montagna M, Dalla Palma M, Menin C, 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, 1055-61. https://doi.org/10.1093/hmg/ddg120
- Morgan JE, Carr IM, Sheridan E, et al (2010). Genetic diagnosis of familial breast cancer using clonal sequencing. Hum Mutat, 31, 484-91. https://doi.org/10.1002/humu.21216
- Ng SB, Turner EH, Robertson PD, et al (2009). Targeted capture and massively parallel sequencing of 12 human exomes. Nature, 461, 272-6. https://doi.org/10.1038/nature08250
- Okou DT, Steinberg KM, Middle C, et al (2007). Microarraybased genomic selection for high-throughput resequencing. Nat Methods, 4, 907-9. https://doi.org/10.1038/nmeth1109
- Thomassen M, Gerdes AM, Cruger D, Jensen PKA, Kruse TA (2006). Low frequency of large genomic rearrangements of BRCA1 and BRCA2 in western Denmark. Cancer Genet Cytogenet, 168, 168-71. https://doi.org/10.1016/j.cancergencyto.2005.12.016
- Thompson JF, Reifenberger JG, Giladi E, et al (2012). Singlestep capture and sequencing of natural DNA for detection of BRCA1 mutations. Genome Res, 22, 340-5. https://doi.org/10.1101/gr.122192.111
- Walsh T, Casadei S, Coats KH, et al (2006). Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer. JAMA, 295, 1379-88. https://doi.org/10.1001/jama.295.12.1379
- Walsh T, Lee MK, Casadei S, et al (2010). Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing. Proc Natl Acad Sci USA, 107, 12629-33. https://doi.org/10.1073/pnas.1007983107
- Wang K, Li M, Hakonarson H (2010). ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res, 38, 164. https://doi.org/10.1093/nar/gkq603
- Zvelebil M, Baum J (2007). Understanding Bioinformatic. Garland Science, New York, 356.
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