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Published Research

Roche NimbleGen array technology has helped power the research behind 100+ peer-reviewed publications. Search our publication list to learn more about our technology and the science it supports.

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Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79.

Rehman AU
, Morell RJ, Belyantseva IA, Khan SY, Boger ET, Shahzad M, Ahmed ZM, Riazuddin S, Khan SN, Riazuddin S, and Friedman TB.
American journal of human genetics
 86 (3), 378-388.
12 Mar 2010
Sequence Capture

Repeat subtraction-mediated sequence capture from a complex genome.

Fu Y
, Springer NM, Gerhardt DJ, Ying K, Yeh C, Wu W, Swanson-Wagner R, D'Ascenzo M, Millard T, Freeberg L, Aoyama N, Kitzman J, Burgess D, Richmond T, Albert TJ, Barbazuk WB, Jeddeloh JA, and Schnable PS.
The Plant journal : for cell and molecular biology
 , -.
4 Mar 2010
Sequence Capture

Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy.

Nikopoulos K
, Gilissen C, Hoischen A, van Nouhuys CE, Boonstra FN, Blokland EAW, Arts P, Wieskamp N, Strom TM, Ayuso C, Tilanus MAD, Bouwhuis S, Mukhopadhyay A, Scheffer H, Hoefsloot LH, Veltman JA, Cremers FPM, and Collin RWJ.
American journal of human genetics
 86 (2), 240-247.
12 Feb 2010
Sequence Capture

Rfx6 directs islet formation and insulin production in mice and humans.

Smith S
, Qu H, Taleb N, Kishimoto N, Scheel D, Lu Y, Patch A, Grabs R, Wang J, Lynn F, Miyatsuka T, Mitchell J, Seerke R, Desir J, Eijnden SV, Abramowicz M, Kacet N, Weill J, Renard M, Gentile M, Hansen I, Dewar K, Hattersley A, Wang R, Wilson M, Johnson J, Polychronakos C, and German M.
Nature
 463 (7282), 775-780.
11 Feb 2010
Sequence Capture

DNA sequence capture and enrichment by microarray followed by next-generation sequencing for targeted resequencing

Chou L
, Liu CJ, Boese B, Zhang X, and Mao R.
Clinical chemistry
 56 (1), 62-72.
Jan 2010
Sequence Capture

Genome-wide analysis of allelic expression imbalance in human primary cells by high-throughput transcriptome resequencing.

Heap GA
, Yang JHM, Downes K, Healy BC, Hunt KA, Bockett N, Franke L, Dubois PC, Mein CA, Dobson RJ, Albert TJ, Rodesch MJ, Clayton DG, Todd JA, van Heel DA, and Plagnol V.
Human molecular genetics
 19 (1), 122-134.
1 Jan 2010
Sequence Capture

A comprehensive resequence analysis of the KLK15-KLK3-KLK2 locus on chromosome 19q13.33.

Parikh H
, Deng Z, Yeager M, Boland J, Matthews C, Jia J, Collins I, White A, Burdett L, Hutchinson A, Qi L, Bacior JA, Lonsberry V, Rodesch MJ, Jeddeloh JA, Albert TJ, Halvensleben HA, Harkins TT, Ahn J, Berndt SI, Chatterjee N, Hoover R, Thomas G, Hunter DJ, Hayes RB, Chanock SJ, and Amundadottir L.
Human genetics
 127 (1), 91-99.
Jan 2010
Sequence Capture

Exome sequencing of a multigenerational human pedigree.

Hedges D
, Burges D, Powell E, Almonte C, Huang J, Young S, Boese B, Schmidt M, Pericak-Vance MA, Martin E, Zhang X, Harkins TT, and Züchner S.
PloS one
 4 (12), e8232.
2009
Sequence Capture

Combining microarray-based genomic selection (MGS) with the Illumina Genome Analyzer platform to sequence diploid target regions.

Okou DT
, Locke AE, Steinberg KM, Hagen K, Athri P, Shetty AC, Patel V, and Zwick ME.
Annals of human genetics
 73 (Pt 5), 502-513.
Sep 2009
Sequence Capture

Mutation discovery in the mouse using genetically guided array capture and resequencing.

D'Ascenzo M
, Meacham C, Kitzman J, Middle C, Knight J, Winer R, Kukricar M, Richmond T, Albert TJ, Czechanski A, Donahue LR, Affourtit J, Jeddeloh JA, and Reinholdt L.
Mammalian genome : official journal of the International Mammalian Genome Society
 20 (7), 424-436.
Jul 2009
Sequence Capture