Park DJ - Search Results

1

Variant effect prediction tools assessed using independent, functional assay-based datasets: implications for discovery and diagnostics.

Mahmood K, Jung CH, Philip G, Georgeson P, Chung J, Pope BJ, Park DJ. Mahmood K, et al. Among authors: park dj. Hum Genomics. 2017 May 16;11(1):10. doi: 10.1186/s40246-017-0104-8. Hum Genomics. 2017. PMID: 28511696 Free PMC article.

2

ROVER variant caller: read-pair overlap considerate variant-calling software applied to PCR-based massively parallel sequencing datasets.

Pope BJ, Nguyen-Dumont T, Hammet F, Park DJ. Pope BJ, et al. Among authors: park dj. Source Code Biol Med. 2014 Jan 24;9(1):3. doi: 10.1186/1751-0473-9-3. Source Code Biol Med. 2014. PMID: 24461215 Free PMC article.

3

UNDR ROVER - a fast and accurate variant caller for targeted DNA sequencing.

Park DJ, Li R, Lau E, Georgeson P, Nguyen-Dumont T, Pope BJ. Park DJ, et al. BMC Bioinformatics. 2016 Apr 16;17:165. doi: 10.1186/s12859-016-1014-9. BMC Bioinformatics. 2016. PMID: 27083325 Free PMC article.

4

Fine resolution mapping of double-strand break sites for human ribosomal DNA units.

Pope BJ, Mahmood K, Jung CH, Park DJ. Pope BJ, et al. Among authors: park dj. Genom Data. 2016 Aug 24;10:19-21. doi: 10.1016/j.gdata.2016.08.012. eCollection 2016 Dec. Genom Data. 2016. PMID: 27656414 Free PMC article.

5

Single nucleotide-level mapping of DNA double-strand breaks in human HEK293T cells.

Pope BJ, Mahmood K, Jung CH, Georgeson P, Park DJ. Pope BJ, et al. Among authors: park dj. Genom Data. 2016 Nov 11;11:43-45. doi: 10.1016/j.gdata.2016.11.007. eCollection 2017 Mar. Genom Data. 2016. PMID: 27942458 Free PMC article.

6

Is RNASEL:p.Glu265* a modifier of early-onset breast cancer risk for carriers of high-risk mutations?

Nguyen-Dumont T, Teo ZL, Hammet F, Roberge A, Mahmoodi M, Tsimiklis H, Park DJ, Pope BJ, Lonie A, Kapuscinski MK, Mahmood K; ABCFR; Goldgar DE, Giles GG, Winship I, Hopper JL, Southey MC. Nguyen-Dumont T, et al. Among authors: park dj. BMC Cancer. 2018 Feb 8;18(1):165. doi: 10.1186/s12885-018-4028-z. BMC Cancer. 2018. PMID: 29422015 Free PMC article.

7

Hi-Plex for high-throughput mutation screening: application to the breast cancer susceptibility gene PALB2.

Nguyen-Dumont T, Teo ZL, Pope BJ, Hammet F, Mahmoodi M, Tsimiklis H, Sabbaghian N, Tischkowitz M, Foulkes WD; Kathleen Cuningham Foundation Consortium for research into Familial Breast cancer (kConFab); Giles GG, Hopper JL; Australian Breast Cancer Family Registry; Southey MC, Park DJ. Nguyen-Dumont T, et al. Among authors: park dj. BMC Med Genomics. 2013 Nov 8;6:48. doi: 10.1186/1755-8794-6-48. BMC Med Genomics. 2013. PMID: 24206657 Free PMC article.

8

Hi-Plex for Simple, Accurate, and Cost-Effective Amplicon-based Targeted DNA Sequencing.

Pope BJ, Hammet F, Nguyen-Dumont T, Park DJ. Pope BJ, et al. Among authors: park dj. Methods Mol Biol. 2018;1712:53-70. doi: 10.1007/978-1-4939-7514-3_5. Methods Mol Biol. 2018. PMID: 29224068

9

sEst: Accurate Sex-Estimation and Abnormality Detection in Methylation Microarray Data.

Jung CH, Park DJ, Georgeson P, Mahmood K, Milne RL, Southey MC, Pope BJ. Jung CH, et al. Among authors: park dj. Int J Mol Sci. 2018 Oct 15;19(10):3172. doi: 10.3390/ijms19103172. Int J Mol Sci. 2018. PMID: 30326623 Free PMC article.

10

Genetic testing in Poland and Ukraine: should comprehensive germline testing of BRCA1 and BRCA2 be recommended for women with breast and ovarian cancer?

Nguyen-Dumont T, Karpinski P, Sasiadek MM, Akopyan H, Steen JA, Theys D, Hammet F, Tsimiklis H, Park DJ, Pope BJ, Slezak R, Stembalska A, Pesz K, Kitsera N, Siekierzynska A, Southey MC, Myszka A. Nguyen-Dumont T, et al. Among authors: park dj. Genet Res (Camb). 2020 Aug 10;102:e6. doi: 10.1017/S0016672320000075. Genet Res (Camb). 2020. PMID: 32772980 Free PMC article.

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