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Items: 19

1.
2.

Whole-exome sequencing and whole genome re-sequencing for prenatal diagnosis of achondroplasia.

Zhao R, Ruan Y, Wang X.

Int J Clin Exp Med. 2015 Oct 15;8(10):19241-9. eCollection 2015.

3.

Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders.

Polla DL, Cardoso MT, Silva MC, Cardoso IC, Medina CT, Araujo R, Fernandes CC, Reis AM, de Andrade RV, Pereira RW, Pogue R.

PLoS One. 2015 Sep 18;10(9):e0138314. doi: 10.1371/journal.pone.0138314. eCollection 2015.

4.

A Rapid, High-Quality, Cost-Effective, Comprehensive and Expandable Targeted Next-Generation Sequencing Assay for Inherited Heart Diseases.

Wilson KD, Shen P, Fung E, Karakikes I, Zhang A, InanlooRahatloo K, Odegaard J, Sallam K, Davis RW, Lui GK, Ashley EA, Scharfe C, Wu JC.

Circ Res. 2015 Sep 11;117(7):603-11. doi: 10.1161/CIRCRESAHA.115.306723. Epub 2015 Aug 11.

PMID:
26265630
5.

How Can Next-Generation Sequencing (Genomics) Help Us in Treating Colorectal Cancer?

Ciombor KK, Haraldsdottir S, Goldberg RM.

Curr Colorectal Cancer Rep. 2014 Dec 1;10(4):372-379.

6.

Development and evaluation of a panel of filovirus sequence capture probes for pathogen detection by next-generation sequencing.

Koehler JW, Hall AT, Rolfe PA, Honko AN, Palacios GF, Fair JN, Muyembe JJ, Mulembekani P, Schoepp RJ, Adesokan A, Minogue TD.

PLoS One. 2014 Sep 10;9(9):e107007. doi: 10.1371/journal.pone.0107007. eCollection 2014.

7.

MIPgen: optimized modeling and design of molecular inversion probes for targeted resequencing.

Boyle EA, O'Roak BJ, Martin BK, Kumar A, Shendure J.

Bioinformatics. 2014 Sep 15;30(18):2670-2. doi: 10.1093/bioinformatics/btu353. Epub 2014 May 26.

8.

Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders.

Fernández-Marmiesse A, Morey M, Pineda M, Eiris J, Couce ML, Castro-Gago M, Fraga JM, Lacerda L, Gouveia S, Pérez-Poyato MS, Armstrong J, Castiñeiras D, Cocho JA.

Orphanet J Rare Dis. 2014 Apr 25;9:59. doi: 10.1186/1750-1172-9-59.

9.

Methods for the preparation of large quantities of complex single-stranded oligonucleotide libraries.

Murgha YE, Rouillard JM, Gulari E.

PLoS One. 2014 Apr 14;9(4):e94752. doi: 10.1371/journal.pone.0094752. eCollection 2014.

10.

Ancestry estimation and control of population stratification for sequence-based association studies.

Wang C, Zhan X, Bragg-Gresham J, Kang HM, Stambolian D, Chew EY, Branham KE, Heckenlively J; FUSION Study, Fulton R, Wilson RK, Mardis ER, Lin X, Swaroop A, Zöllner S, Abecasis GR.

Nat Genet. 2014 Apr;46(4):409-15. doi: 10.1038/ng.2924. Epub 2014 Mar 16.

11.

Targeted sequence capture and GS-FLX Titanium sequencing of 23 hypertrophic and dilated cardiomyopathy genes: implementation into diagnostics.

Mook OR, Haagmans MA, Soucy JF, van de Meerakker JB, Baas F, Jakobs ME, Hofman N, Christiaans I, Lekanne Deprez RH, Mannens MM.

J Med Genet. 2013 Sep;50(9):614-26. doi: 10.1136/jmedgenet-2012-101231. Epub 2013 Jun 19.

12.

Multiplex target capture with double-stranded DNA probes.

Shen P, Wang W, Chi AK, Fan Y, Davis RW, Scharfe C.

Genome Med. 2013 May 29;5(5):50. doi: 10.1186/gm454. eCollection 2013.

13.

Rare variant detection using family-based sequencing analysis.

Peng G, Fan Y, Palculict TB, Shen P, Ruteshouser EC, Chi AK, Davis RW, Huff V, Scharfe C, Wang W.

Proc Natl Acad Sci U S A. 2013 Mar 5;110(10):3985-90. doi: 10.1073/pnas.1222158110. Epub 2013 Feb 20.

14.

Single molecule molecular inversion probes for targeted, high-accuracy detection of low-frequency variation.

Hiatt JB, Pritchard CC, Salipante SJ, O'Roak BJ, Shendure J.

Genome Res. 2013 May;23(5):843-54. doi: 10.1101/gr.147686.112. Epub 2013 Feb 4.

15.

Targeted enrichment of the black cottonwood (Populus trichocarpa) gene space using sequence capture.

Zhou L, Holliday JA.

BMC Genomics. 2012 Dec 14;13:703. doi: 10.1186/1471-2164-13-703.

16.

SRMA: an R package for resequencing array data analysis.

Zhang N, Xu Y, O'Hely M, Speed TP, Scharfe C, Wang W.

Bioinformatics. 2012 Jul 15;28(14):1928-30. doi: 10.1093/bioinformatics/bts286. Epub 2012 May 10.

17.

An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia.

Dias C, Sincan M, Cherukuri PF, Rupps R, Huang Y, Briemberg H, Selby K, Mullikin JC, Markello TC, Adams DR, Gahl WA, Boerkoel CF.

Hum Mutat. 2012 Apr;33(4):614-26. doi: 10.1002/humu.22032. Epub 2012 Feb 28.

18.

Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.

Calvo SE, Compton AG, Hershman SG, Lim SC, Lieber DS, Tucker EJ, Laskowski A, Garone C, Liu S, Jaffe DB, Christodoulou J, Fletcher JM, Bruno DL, Goldblatt J, Dimauro S, Thorburn DR, Mootha VK.

Sci Transl Med. 2012 Jan 25;4(118):118ra10. doi: 10.1126/scitranslmed.3003310.

19.

Identification of sequence variants in genetic disease-causing genes using targeted next-generation sequencing.

Wei X, Ju X, Yi X, Zhu Q, Qu N, Liu T, Chen Y, Jiang H, Yang G, Zhen R, Lan Z, Qi M, Wang J, Yang Y, Chu Y, Li X, Guang Y, Huang J.

PLoS One. 2011;6(12):e29500. doi: 10.1371/journal.pone.0029500. Epub 2011 Dec 21.

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