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Items: 1 to 20 of 25

1.

Discovery and statistical genotyping of copy-number variation from whole-exome sequencing depth.

Fromer M, Moran JL, Chambert K, Banks E, Bergen SE, Ruderfer DM, Handsaker RE, McCarroll SA, O'Donovan MC, Owen MJ, Kirov G, Sullivan PF, Hultman CM, Sklar P, Purcell SM.

Am J Hum Genet. 2012 Oct 5;91(4):597-607. doi: 10.1016/j.ajhg.2012.08.005.

2.

Exome sequence read depth methods for identifying copy number changes.

Kadalayil L, Rafiq S, Rose-Zerilli MJ, Pengelly RJ, Parker H, Oscier D, Strefford JC, Tapper WJ, Gibson J, Ennis S, Collins A.

Brief Bioinform. 2015 May;16(3):380-92. doi: 10.1093/bib/bbu027. Epub 2014 Aug 28. Review.

PMID:
25169955
3.

Exome sequencing and whole genome sequencing for the detection of copy number variation.

Hehir-Kwa JY, Pfundt R, Veltman JA.

Expert Rev Mol Diagn. 2015;15(8):1023-32. doi: 10.1586/14737159.2015.1053467. Epub 2015 Jun 18. Review.

PMID:
26088785
4.

[Copy number variations in the human genome: their mutational mechanisms and roles in diseases].

Du RQ, Jin L, Zhang F.

Yi Chuan. 2011 Aug;33(8):857-69. Review. Chinese.

PMID:
21831802
5.

Genome structural variation discovery and genotyping.

Alkan C, Coe BP, Eichler EE.

Nat Rev Genet. 2011 May;12(5):363-76. doi: 10.1038/nrg2958. Epub 2011 Mar 1. Review.

6.

Current analysis platforms and methods for detecting copy number variation.

Li W, Olivier M.

Physiol Genomics. 2013 Jan 7;45(1):1-16. doi: 10.1152/physiolgenomics.00082.2012. Epub 2012 Nov 6. Review.

7.

A copy number variation map of the human genome.

Zarrei M, MacDonald JR, Merico D, Scherer SW.

Nat Rev Genet. 2015 Mar;16(3):172-83. doi: 10.1038/nrg3871. Epub 2015 Feb 3. Review.

PMID:
25645873
8.

Statistical issues in the analysis of DNA Copy Number Variations.

Wineinger NE, Kennedy RE, Erickson SW, Wojczynski MK, Bruder CE, Tiwari HK.

Int J Comput Biol Drug Des. 2008;1(4):368-95. doi: 10.1504/IJCBDD.2008.022208. Review.

9.
10.

[Exome sequencing and its application].

Zhang X, Li M, Zhang XJ.

Yi Chuan. 2011 Aug;33(8):847-56. Review. Chinese.

PMID:
21831801
11.

In search of low-frequency and rare variants affecting complex traits.

Panoutsopoulou K, Tachmazidou I, Zeggini E.

Hum Mol Genet. 2013 Oct 15;22(R1):R16-21. doi: 10.1093/hmg/ddt376. Epub 2013 Aug 6. Review.

12.

Exome sequencing: a transformative technology.

Singleton AB.

Lancet Neurol. 2011 Oct;10(10):942-6. doi: 10.1016/S1474-4422(11)70196-X. Review.

13.

The role and challenges of exome sequencing in studies of human diseases.

Wang Z, Liu X, Yang BZ, Gelernter J.

Front Genet. 2013 Aug 26;4:160. doi: 10.3389/fgene.2013.00160. Review.

14.

Copy number variants in obesity-related syndromes: review and perspectives on novel molecular approaches.

D'Angelo CS, Koiffmann CP.

J Obes. 2012;2012:845480. doi: 10.1155/2012/845480. Epub 2012 Dec 17. Review.

15.

Hidden Markov Model-Based CNV Detection Algorithms for Illumina Genotyping Microarrays.

Seiser EL, Innocenti F.

Cancer Inform. 2015 Jan 27;13(Suppl 7):77-83. doi: 10.4137/CIN.S16345. eCollection 2014. Review.

16.

Copy Number Variation in Chickens: A Review and Future Prospects.

Wang X, Byers S.

Microarrays (Basel). 2014 Feb 5;3(1):24-38. doi: 10.3390/microarrays3010024. Review.

17.

Genomic disorders 20 years on-mechanisms for clinical manifestations.

Harel T, Lupski JR.

Clin Genet. 2018 Mar;93(3):439-449. doi: 10.1111/cge.13146. Epub 2017 Dec 1. Review.

PMID:
28950406
18.

Applications of high-throughput DNA sequencing to benign hematology.

Sankaran VG, Gallagher PG.

Blood. 2013 Nov 21;122(22):3575-82. doi: 10.1182/blood-2013-07-460337. Epub 2013 Sep 10. Review.

19.

Sequence capture by hybridization to explore modern and ancient genomic diversity in model and nonmodel organisms.

Gasc C, Peyretaillade E, Peyret P.

Nucleic Acids Res. 2016 Jun 2;44(10):4504-18. doi: 10.1093/nar/gkw309. Epub 2016 Apr 21. Review.

20.

Gastric cancer and gene copy number variation: emerging cancer drivers for targeted therapy.

Liang L, Fang JY, Xu J.

Oncogene. 2016 Mar 24;35(12):1475-82. doi: 10.1038/onc.2015.209. Epub 2015 Jun 15. Review.

PMID:
26073079

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