Biomedical Engineering Reference
In-Depth Information
References
1. Hall, J.M., Lee, M.K., Newman, B.
et al
. (1990) Linkage of early-onset familial breast cancer to
chromosome 17q21.
Science
,
250
, 1684-1689.
2. Castilla, L.H., Couch, F.J., Erdos, M.R.
et al
. (1994) Mutations in the
BRCA1
gene in families
with early-onset breast and ovarian cancer.
Nature Genetics
,
8
, 387-391.
3. Wooster, R., Bignell, G., Lancaster, J.
et al
. (1995) Identification of the breast cancer susceptibility
gene BRCA2.
Nature
,
378
, 789-792.
4. Leach, F.S., Nicolaides, N.C., Papadopoulos, N.
et al
. (1993) Mutations of a mutS homolog in
hereditary nonpolyposis colorectal cancer.
Cell
,
75
, 1215-1225.
5. Peltomaki, P., Aaltonen, L.A., Sistonen, P.
et al
. (1993) Genetic mapping of a locus predisposing
to human colorectal cancer.
Science
,
260
, 810-812.
6. Lindblom, A., Tannergard, P., Werelius, B. and Nordenskjold, M. (1993) Genetic mapping of a
second locus predisposing to hereditary non-polyposis colon cancer.
Nature Genetics
,
5
, 279-282.
7. Papadopoulos, N., Nicolaides, N.C., Wei, Y.F.
et al
. (1994) Mutation of a mutL homolog in
hereditary colon cancer.
Science
,
263
, 1625-1629.
8. Wyman, A.R. and White, R. (1980) A highly polymorphic locus in human DNA.
Proceedings of
the National Academy of Sciences of the United States of America
,
77
, 6754-6758.
9. Tautz, D. (1989) Hypervariability of simple sequences as a general source for polymorphic DNA
markers.
Nucleic Acids Research
,
17
, 6463-6471.
10. Shen, R., Fan, J.B., Campbell, D.
et al
. (2005) High-throughput SNP genotyping on universal
bead arrays.
Mutation Research
,
573
, 70-82. Describes the development of a highly multiplexed
SNP genotyping assay for high-throughput genetic analysis of large populations on a bead array
platform.
11. Hardenbol, P., Yu, F., Belmont, J.
et al
. (2005) Highly multiplexed molecular inversion probe
genotyping: over 10,000 targeted SNPs genotyped in a single tube assay.
Genome Research
,
15
,
269-275.
12. Kennedy, G.C., Matsuzaki, H., Dong, S.
et al
. (2003) Large-scale genotyping of complex DNA.
Nature Biotechnology
,
21
, 1233-1237. Demonstrates that oligonucleotide arrays designed for
CGH provide a robust and precise platform for detecting chromosomal alterations throughout a
genome.
13. Matsuzaki, H., Loi, H., Dong, S.
et al
. (2004) Parallel genotyping of over 10,000 SNPs using a
one-primer assay on a high-density oligonucleotide array.
Genome Research
,
14
, 414-425.
14. Gunderson, K.L., Steemers, F.J., Lee, G.
et al
. (2005) A genome-wide scalable SNP genotyping
assay using microarray technology.
Nature Genetics
,
37
, 549-554. A whole-genome genotyping
assay that combines specific hybridization of WGA DNA to arrayed probes with allele-specific
primer extension and signal amplification.
15. Hua, J., Craig, D.W., Brun, M.
et al
. (2007) SNiPer-HD: improved genotype calling accuracy by
an expectation-maximization algorithm for high-density SNP arrays.
Bioinformatics
,
23
, 57-63.
16. Hu, G., Wang, H.Y., Greenawalt, D.M.
et al
. (2006) AccuTyping: new algorithms for automated
analysis of data from high-throughput genotyping with oligonucleotide microarrays.
Nucleic Acids
Research
,
34
, e116.
17. Scharpf, R.B., Ting, J.C., Pevsner, J. and Ruczinski, I. (2007)
SNPchip
: R classes and methods
for SNP array data.
Bioinformatics
,
23
, 627-628.