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Results: 1 to 20 of 96

1.

A robust approach for blind detection of balanced chromosomal rearrangements with whole-genome low-coverage sequencing.

Dong Z, Jiang L, Yang C, Hu H, Wang X, Chen H, Choy KW, Hu H, Dong Y, Hu B, Xu J, Long Y, Cao S, Chen H, Wang WJ, Jiang H, Xu F, Yao H, Xu X, Liang Z.

Hum Mutat. 2014 May;35(5):625-36. doi: 10.1002/humu.22541. Epub 2014 Apr 9.

PMID:
24610732
[PubMed - indexed for MEDLINE]
2.

Next-generation sequencing strategies enable routine detection of balanced chromosome rearrangements for clinical diagnostics and genetic research.

Talkowski ME, Ernst C, Heilbut A, Chiang C, Hanscom C, Lindgren A, Kirby A, Liu S, Muddukrishna B, Ohsumi TK, Shen Y, Borowsky M, Daly MJ, Morton CC, Gusella JF.

Am J Hum Genet. 2011 Apr 8;88(4):469-81. doi: 10.1016/j.ajhg.2011.03.013.

PMID:
21473983
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Sequencing of a patient with balanced chromosome abnormalities and neurodevelopmental disease identifies disruption of multiple high risk loci by structural variation.

Blake J, Riddell A, Theiss S, Gonzalez AP, Haase B, Jauch A, Janssen JW, Ibberson D, Pavlinic D, Moog U, Benes V, Runz H.

PLoS One. 2014 Mar 13;9(3):e90894. doi: 10.1371/journal.pone.0090894. eCollection 2014.

PMID:
24625750
[PubMed - in process]
Free PMC Article
4.

Huvariome: a web server resource of whole genome next-generation sequencing allelic frequencies to aid in pathological candidate gene selection.

Stubbs A, McClellan EA, Horsman S, Hiltemann SD, Palli I, Nouwens S, Koning AH, Hoogland F, Reumers J, Heijsman D, Swagemakers S, Kremer A, Meijerink J, Lambrechts D, van der Spek PJ.

J Clin Bioinforma. 2012 Nov 19;2(1):19. doi: 10.1186/2043-9113-2-19.

PMID:
23164068
[PubMed]
Free PMC Article
5.

On the power and the systematic biases of the detection of chromosomal inversions by paired-end genome sequencing.

Lucas Lledó JI, Cáceres M.

PLoS One. 2013 Apr 23;8(4):e61292. doi: 10.1371/journal.pone.0061292. Print 2013.

PMID:
23637806
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Non-invasive prenatal testing for fetal chromosomal abnormalities by low-coverage whole-genome sequencing of maternal plasma DNA: review of 1982 consecutive cases in a single center.

Lau TK, Cheung SW, Lo PS, Pursley AN, Chan MK, Jiang F, Zhang H, Wang W, Jong LF, Yuen OK, Chan HY, Chan WS, Choy KW.

Ultrasound Obstet Gynecol. 2014 Mar;43(3):254-64. doi: 10.1002/uog.13277. Epub 2014 Feb 10. Review.

PMID:
24339153
[PubMed - indexed for MEDLINE]
Free Article
7.

Design of large-insert jumping libraries for structural variant detection using illumina sequencing.

Hanscom C, Talkowski M.

Curr Protoc Hum Genet. 2014 Jan 23;80:7.22.1-9. doi: 10.1002/0471142905.hg0722s80.

PMID:
24789519
[PubMed - in process]
8.

Prenatal detection of aneuploidy and imbalanced chromosomal arrangements by massively parallel sequencing.

Dan S, Chen F, Choy KW, Jiang F, Lin J, Xuan Z, Wang W, Chen S, Li X, Jiang H, Leung TY, Lau TK, Su Y, Zhang W, Zhang X.

PLoS One. 2012;7(2):e27835. doi: 10.1371/journal.pone.0027835. Epub 2012 Feb 28.

PMID:
22389664
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Massively parallel sequencing for chromosomal abnormality testing in trophectoderm cells of human blastocysts.

Yin X, Tan K, Vajta G, Jiang H, Tan Y, Zhang C, Chen F, Chen S, Zhang C, Pan X, Gong C, Li X, Lin C, Gao Y, Liang Y, Yi X, Mu F, Zhao L, Peng H, Xiong B, Zhang S, Cheng D, Lu G, Zhang X, Lin G, Wang W.

Biol Reprod. 2013 Mar 21;88(3):69. doi: 10.1095/biolreprod.112.106211. Print 2013 Mar.

PMID:
23349234
[PubMed - indexed for MEDLINE]
Free Article
10.

Mate pair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations.

Vergult S, Van Binsbergen E, Sante T, Nowak S, Vanakker O, Claes K, Poppe B, Van der Aa N, van Roosmalen MJ, Duran K, Tavakoli-Yaraki M, Swinkels M, van den Boogaard MJ, van Haelst M, Roelens F, Speleman F, Cuppen E, Mortier G, Kloosterman WP, Menten B.

Eur J Hum Genet. 2014 May;22(5):652-9. doi: 10.1038/ejhg.2013.220. Epub 2013 Oct 9.

PMID:
24105367
[PubMed - in process]
11.

Precise detection of chromosomal translocation or inversion breakpoints by whole-genome sequencing.

Suzuki T, Tsurusaki Y, Nakashima M, Miyake N, Saitsu H, Takeda S, Matsumoto N.

J Hum Genet. 2014 Dec;59(12):649-54. doi: 10.1038/jhg.2014.88. Epub 2014 Oct 9.

PMID:
25296578
[PubMed - in process]
12.

Improving mapping and SNP-calling performance in multiplexed targeted next-generation sequencing.

Elsharawy A, Forster M, Schracke N, Keller A, Thomsen I, Petersen BS, Stade B, Stähler P, Schreiber S, Rosenstiel P, Franke A.

BMC Genomics. 2012 Aug 22;13:417. doi: 10.1186/1471-2164-13-417.

PMID:
22913592
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Detecting somatic point mutations in cancer genome sequencing data: a comparison of mutation callers.

Wang Q, Jia P, Li F, Chen H, Ji H, Hucks D, Dahlman KB, Pao W, Zhao Z.

Genome Med. 2013 Oct 11;5(10):91. doi: 10.1186/gm495. eCollection 2013.

PMID:
24112718
[PubMed]
Free PMC Article
14.

A single cell level based method for copy number variation analysis by low coverage massively parallel sequencing.

Zhang C, Zhang C, Chen S, Yin X, Pan X, Lin G, Tan Y, Tan K, Xu Z, Hu P, Li X, Chen F, Xu X, Li Y, Zhang X, Jiang H, Wang W.

PLoS One. 2013;8(1):e54236. doi: 10.1371/journal.pone.0054236. Epub 2013 Jan 23.

PMID:
23372689
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Characterization of complex chromosomal rearrangements by targeted capture and next-generation sequencing.

Sobreira NL, Gnanakkan V, Walsh M, Marosy B, Wohler E, Thomas G, Hoover-Fong JE, Hamosh A, Wheelan SJ, Valle D.

Genome Res. 2011 Oct;21(10):1720-7. doi: 10.1101/gr.122986.111. Epub 2011 Sep 2.

PMID:
21890680
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Integrated analysis of whole-genome paired-end and mate-pair sequencing data for identifying genomic structural variations in multiple myeloma.

Yang R, Chen L, Newman S, Gandhi K, Doho G, Moreno CS, Vertino PM, Bernal-Mizarchi L, Lonial S, Boise LH, Rossi M, Kowalski J, Qin ZS.

Cancer Inform. 2014 Sep 21;13(Suppl 2):49-53. doi: 10.4137/CIN.S13783. eCollection 2014. Review.

PMID:
25288879
[PubMed]
Free PMC Article
17.

Characterization of microRNAs expression profiling in one group of Chinese urothelial cell carcinoma identified by Solexa sequencing.

Chen YH, Wang SQ, Wu XL, Shen M, Chen ZG, Chen XG, Liu YX, Zhu XL, Guo F, Duan XZ, Han XC, Tao ZH.

Urol Oncol. 2013 Feb;31(2):219-27. doi: 10.1016/j.urolonc.2010.11.007. Epub 2011 Jul 27.

PMID:
21795071
[PubMed - indexed for MEDLINE]
18.

Characterising chromosome rearrangements: recent technical advances in molecular cytogenetics.

Le Scouarnec S, Gribble SM.

Heredity (Edinb). 2012 Jan;108(1):75-85. doi: 10.1038/hdy.2011.100. Epub 2011 Nov 16. Review.

PMID:
22086080
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Long insert whole genome sequencing for copy number variant and translocation detection.

Liang WS, Aldrich J, Tembe W, Kurdoglu A, Cherni I, Phillips L, Reiman R, Baker A, Weiss GJ, Carpten JD, Craig DW.

Nucleic Acids Res. 2014 Jan;42(2):e8. doi: 10.1093/nar/gkt865. Epub 2013 Sep 25.

PMID:
24071583
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Sensitive and accurate detection of copy number variants using read depth of coverage.

Yoon S, Xuan Z, Makarov V, Ye K, Sebat J.

Genome Res. 2009 Sep;19(9):1586-92. doi: 10.1101/gr.092981.109. Epub 2009 Aug 5.

PMID:
19657104
[PubMed - indexed for MEDLINE]
Free PMC Article

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