Park PJ - Search Results

1

The BabySeq project: implementing genomic sequencing in newborns.

Holm IA, Agrawal PB, Ceyhan-Birsoy O, Christensen KD, Fayer S, Frankel LA, Genetti CA, Krier JB, LaMay RC, Levy HL, McGuire AL, Parad RB, Park PJ, Pereira S, Rehm HL, Schwartz TS, Waisbren SE, Yu TW; BabySeq Project Team; Green RC, Beggs AH. Holm IA, et al. Among authors: park pj. BMC Pediatr. 2018 Jul 9;18(1):225. doi: 10.1186/s12887-018-1200-1. BMC Pediatr. 2018. PMID: 29986673 Free PMC article. Clinical Trial.

2

Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease.

Kim J, Hu C, Moufawad El Achkar C, Black LE, Douville J, Larson A, Pendergast MK, Goldkind SF, Lee EA, Kuniholm A, Soucy A, Vaze J, Belur NR, Fredriksen K, Stojkovska I, Tsytsykova A, Armant M, DiDonato RL, Choi J, Cornelissen L, Pereira LM, Augustine EF, Genetti CA, Dies K, Barton B, Williams L, Goodlett BD, Riley BL, Pasternak A, Berry ER, Pflock KA, Chu S, Reed C, Tyndall K, Agrawal PB, Beggs AH, Grant PE, Urion DK, Snyder RO, Waisbren SE, Poduri A, Park PJ, Patterson A, Biffi A, Mazzulli JR, Bodamer O, Berde CB, Yu TW. Kim J, et al. Among authors: park pj. N Engl J Med. 2019 Oct 24;381(17):1644-1652. doi: 10.1056/NEJMoa1813279. Epub 2019 Oct 9. N Engl J Med. 2019. PMID: 31597037 Free PMC article.

3

Next-generation sequencing-based detection of germline L1-mediated transductions.

Tica J, Lee E, Untergasser A, Meiers S, Garfield DA, Gokcumen O, Furlong EE, Park PJ, Stütz AM, Korbel JO. Tica J, et al. Among authors: park pj. BMC Genomics. 2016 May 10;17:342. doi: 10.1186/s12864-016-2670-x. BMC Genomics. 2016. PMID: 27161561 Free PMC article.

4

Quantized correlation coefficient for measuring reproducibility of ChIP-chip data.

Peng S, Kuroda MI, Park PJ. Peng S, et al. Among authors: park pj. BMC Bioinformatics. 2010 Jul 27;11:399. doi: 10.1186/1471-2105-11-399. BMC Bioinformatics. 2010. PMID: 20663215 Free PMC article.

5

rSW-seq: algorithm for detection of copy number alterations in deep sequencing data.

Kim TM, Luquette LJ, Xi R, Park PJ. Kim TM, et al. Among authors: park pj. BMC Bioinformatics. 2010 Aug 18;11:432. doi: 10.1186/1471-2105-11-432. BMC Bioinformatics. 2010. PMID: 20718989 Free PMC article.

6

Detecting structural variations in the human genome using next generation sequencing.

Xi R, Kim TM, Park PJ. Xi R, et al. Among authors: park pj. Brief Funct Genomics. 2010 Dec;9(5-6):405-15. doi: 10.1093/bfgp/elq025. Epub 2011 Jan 6. Brief Funct Genomics. 2010. PMID: 21216738 Free PMC article. Review.

7

ChIP-chip versus ChIP-seq: lessons for experimental design and data analysis.

Ho JW, Bishop E, Karchenko PV, Nègre N, White KP, Park PJ. Ho JW, et al. Among authors: park pj. BMC Genomics. 2011 Feb 28;12:134. doi: 10.1186/1471-2164-12-134. BMC Genomics. 2011. PMID: 21356108 Free PMC article.

8

A survey of copy-number variation detection tools based on high-throughput sequencing data.

Xi R, Lee S, Park PJ. Xi R, et al. Among authors: park pj. Curr Protoc Hum Genet. 2012 Oct;Chapter 7:Unit7.19. doi: 10.1002/0471142905.hg0719s75. Curr Protoc Hum Genet. 2012. PMID: 23074071

9

NGSCheckMate: software for validating sample identity in next-generation sequencing studies within and across data types.

Lee S, Lee S, Ouellette S, Park WY, Lee EA, Park PJ. Lee S, et al. Among authors: park pj, park wy. Nucleic Acids Res. 2017 Jun 20;45(11):e103. doi: 10.1093/nar/gkx193. Nucleic Acids Res. 2017. PMID: 28369524 Free PMC article.

10

PaSD-qc: quality control for single cell whole-genome sequencing data using power spectral density estimation.

Sherman MA, Barton AR, Lodato MA, Vitzthum C, Coulter ME, Walsh CA, Park PJ. Sherman MA, et al. Among authors: park pj. Nucleic Acids Res. 2018 Feb 28;46(4):e20. doi: 10.1093/nar/gkx1195. Nucleic Acids Res. 2018. PMID: 29186545 Free PMC article.

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