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Items: 1 to 20 of 21


Cpipe: a shared variant detection pipeline designed for diagnostic settings.

Sadedin SP, Dashnow H, James PA, Bahlo M, Bauer DC, Lonie A, Lunke S, Macciocca I, Ross JP, Siemering KR, Stark Z, White SM; Melbourne Genomics Health Alliance, Taylor G, Gaff C, Oshlack A, Thorne NP.

Genome Med. 2015 Jul 10;7(1):68. doi: 10.1186/s13073-015-0191-x. eCollection 2015.


High-resolution characterization of sequence signatures due to non-random cleavage of cell-free DNA.

Chandrananda D, Thorne NP, Bahlo M.

BMC Med Genomics. 2015 Jun 17;8:29. doi: 10.1186/s12920-015-0107-z.


Harnessing gene expression networks to prioritize candidate epileptic encephalopathy genes.

Oliver KL, Lukic V, Thorne NP, Berkovic SF, Scheffer IE, Bahlo M.

PLoS One. 2014 Jul 9;9(7):e102079. doi: 10.1371/journal.pone.0102079. eCollection 2014.


Use of copy number deletion polymorphisms to assess DNA chimerism.

Bruno DL, Ganesamoorthy D, Thorne NP, Ling L, Bahlo M, Forrest S, Veenendaal M, Katerelos M, Skene A, Ierino FL, Power DA, Slater HR.

Clin Chem. 2014 Aug;60(8):1105-14. doi: 10.1373/clinchem.2013.216077. Epub 2014 Jun 4.


Investigating and correcting plasma DNA sequencing coverage bias to enhance aneuploidy discovery.

Chandrananda D, Thorne NP, Ganesamoorthy D, Bruno DL, Benjamini Y, Speed TP, Slater HR, Bahlo M.

PLoS One. 2014 Jan 29;9(1):e86993. doi: 10.1371/journal.pone.0086993. eCollection 2014.


The cost of reducing starting RNA quantity for Illumina BeadArrays: a bead-level dilution experiment.

Lynch AG, Hadfield J, Dunning MJ, Osborne M, Thorne NP, Tavaré S.

BMC Genomics. 2010 Oct 6;11:540. doi: 10.1186/1471-2164-11-540.


Variable hearing impairment in a DFNB2 family with a novel MYO7A missense mutation.

Hildebrand MS, Thorne NP, Bromhead CJ, Kahrizi K, Webster JA, Fattahi Z, Bataejad M, Kimberling WJ, Stephan D, Najmabadi H, Bahlo M, Smith RJ.

Clin Genet. 2010 Jun;77(6):563-71. doi: 10.1111/j.1399-0004.2009.01344.x. Epub 2010 Feb 4.


AURKA overexpression accompanies dysregulation of DNA-damage response genes in invasive urothelial cell carcinoma.

Veerakumarasivam A, Goldstein LD, Saeb-Parsy K, Scott HE, Warren A, Thorne NP, Mills IG, Venkitaraman A, Neal DE, Kelly JD.

Cell Cycle. 2008 Nov 15;7(22):3525-33. Epub 2008 Nov 18. Review.


Tissue-specific splicing factor gene expression signatures.

Grosso AR, Gomes AQ, Barbosa-Morais NL, Caldeira S, Thorne NP, Grech G, von Lindern M, Carmo-Fonseca M.

Nucleic Acids Res. 2008 Sep;36(15):4823-32. doi: 10.1093/nar/gkn463. Epub 2008 Jul 24.


A Bayesian deconvolution strategy for immunoprecipitation-based DNA methylome analysis.

Down TA, Rakyan VK, Turner DJ, Flicek P, Li H, Kulesha E, Gräf S, Johnson N, Herrero J, Tomazou EM, Thorne NP, Bäckdahl L, Herberth M, Howe KL, Jackson DK, Miretti MM, Marioni JC, Birney E, Hubbard TJ, Durbin R, Tavaré S, Beck S.

Nat Biotechnol. 2008 Jul;26(7):779-85. doi: 10.1038/nbt1414.


An integrated resource for genome-wide identification and analysis of human tissue-specific differentially methylated regions (tDMRs).

Rakyan VK, Down TA, Thorne NP, Flicek P, Kulesha E, Gräf S, Tomazou EM, Bäckdahl L, Johnson N, Herberth M, Howe KL, Jackson DK, Miretti MM, Fiegler H, Marioni JC, Birney E, Hubbard TJ, Carter NP, Tavaré S, Beck S.

Genome Res. 2008 Sep;18(9):1518-29. doi: 10.1101/gr.077479.108. Epub 2008 Jun 24.


Breaking the waves: improved detection of copy number variation from microarray-based comparative genomic hybridization.

Marioni JC, Thorne NP, Valsesia A, Fitzgerald T, Redon R, Fiegler H, Andrews TD, Stranger BE, Lynch AG, Dermitzakis ET, Carter NP, Tavaré S, Hurles ME.

Genome Biol. 2007;8(10):R228.


Cell cycle genes are the evolutionarily conserved targets of the E2F4 transcription factor.

Conboy CM, Spyrou C, Thorne NP, Wade EJ, Barbosa-Morais NL, Wilson MD, Bhattacharjee A, Young RA, Tavaré S, Lees JA, Odom DT.

PLoS One. 2007 Oct 24;2(10):e1061.


High-resolution aCGH and expression profiling identifies a novel genomic subtype of ER negative breast cancer.

Chin SF, Teschendorff AE, Marioni JC, Wang Y, Barbosa-Morais NL, Thorne NP, Costa JL, Pinder SE, van de Wiel MA, Green AR, Ellis IO, Porter PL, Tavaré S, Brenton JD, Ylstra B, Caldas C.

Genome Biol. 2007;8(10):R215.


MicroRNA expression profiling of human breast cancer identifies new markers of tumor subtype.

Blenkiron C, Goldstein LD, Thorne NP, Spiteri I, Chin SF, Dunning MJ, Barbosa-Morais NL, Teschendorff AE, Green AR, Ellis IO, Tavaré S, Caldas C, Miska EA.

Genome Biol. 2007;8(10):R214.


Global microRNA profiles in cervical squamous cell carcinoma depend on Drosha expression levels.

Muralidhar B, Goldstein LD, Ng G, Winder DM, Palmer RD, Gooding EL, Barbosa-Morais NL, Mukherjee G, Thorne NP, Roberts I, Pett MR, Coleman N.

J Pathol. 2007 Aug;212(4):368-77.


Missing channels in two-colour microarray experiments: combining single-channel and two-channel data.

Lynch AG, Neal DE, Kelly JD, Burtt GJ, Thorne NP.

BMC Bioinformatics. 2007 Jan 25;8:26.


MMASS: an optimized array-based method for assessing CpG island methylation.

Ibrahim AE, Thorne NP, Baird K, Barbosa-Morais NL, Tavaré S, Collins VP, Wyllie AH, Arends MJ, Brenton JD.

Nucleic Acids Res. 2006;34(20):e136. Epub 2006 Oct 13.


Using array-comparative genomic hybridization to define molecular portraits of primary breast cancers.

Chin SF, Wang Y, Thorne NP, Teschendorff AE, Pinder SE, Vias M, Naderi A, Roberts I, Barbosa-Morais NL, Garcia MJ, Iyer NG, Kranjac T, Robertson JF, Aparicio S, Tavaré S, Ellis I, Brenton JD, Caldas C.

Oncogene. 2007 Mar 22;26(13):1959-70. Epub 2006 Sep 25.


Metabolic consequences of p300 gene deletion in human colon cancer cells.

Bundy JG, Iyer NG, Gentile MS, Hu DE, Kettunen M, Maia AT, Thorne NP, Brenton JD, Caldas C, Brindle KM.

Cancer Res. 2006 Aug 1;66(15):7606-14.

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