Publications by authors named "Natalie P Thorne"

19Publications

Evaluation of computational programs to predict HLA genotypes from genomic sequencing data.

Brief Bioinform 2018 03;19(2):179-187

Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Australia.

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http://dx.doi.org/10.1093/bib/bbw097DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6019030PMC
March 2018

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

Genome Med 2015 10;7(1):68. Epub 2015 Jul 10.

Murdoch Childrens Research Institute, Royal Children's Hospital, Flemington Road, Parkville, 3052 Australia ; Department of Medical Biology, The University of Melbourne, Melbourne, VIC 3010 Australia ; Melbourne Genomics Health Alliance, Melbourne, Australia ; Walter and Eliza Hall Institute, Parkville, VIC 3052 Australia.

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http://dx.doi.org/10.1186/s13073-015-0191-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4515933PMC
July 2015

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

BMC Med Genomics 2015 Jun 17;8:29. Epub 2015 Jun 17.

Bioinformatics Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, Melbourne, VIC, 3052, Australia.

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http://dx.doi.org/10.1186/s12920-015-0107-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4469119PMC
June 2015

Harnessing gene expression networks to prioritize candidate epileptic encephalopathy genes.

PLoS One 2014 9;9(7):e102079. Epub 2014 Jul 9.

Bioinformatics Division, The Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia; Department of Mathematics and Statistics, University of Melbourne, Melbourne, Victoria, Australia.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0102079PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4090166PMC
December 2015

Use of copy number deletion polymorphisms to assess DNA chimerism.

Clin Chem 2014 Aug 4;60(8):1105-14. Epub 2014 Jun 4.

Murdoch Childrens Research Institute, Melbourne, VIC, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia;

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http://dx.doi.org/10.1373/clinchem.2013.216077DOI Listing
August 2014

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

PLoS One 2014 29;9(1):e86993. Epub 2014 Jan 29.

Bioinformatics Division, The Walter and Eliza Hall Institute of Medical Research, Melbourne, Australia ; Department of Mathematics and Statistics, University of Melbourne, Melbourne, Australia.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0086993PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3906086PMC
September 2014

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

BMC Genomics 2010 Oct 6;11:540. Epub 2010 Oct 6.

Department of Oncology, University of Cambridge, Li Ka Shing Centre, Robinson Way, Cambridge, UK.

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http://dx.doi.org/10.1186/1471-2164-11-540DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3091689PMC
October 2010

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

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

University of Cambridge, Department of Oncology, Cancer Research UK, Cambridge Research Institute, Li Ka Shing Centre, Cambridge, UK.

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http://dx.doi.org/10.4161/cc.7.22.7042DOI Listing
November 2008

Tissue-specific splicing factor gene expression signatures.

Nucleic Acids Res 2008 Sep 24;36(15):4823-32. Epub 2008 Jul 24.

Instituto de Medicina Molecular, Faculdade de Medicina, Universidade de Lisboa, 1649-028 Lisboa, Portugal.

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https://academic.oup.com/nar/article-lookup/doi/10.1093/nar/
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http://dx.doi.org/10.1093/nar/gkn463DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2528195PMC
September 2008

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

Genome Biol 2007 ;8(10):R228

Computational Biology Group, Department of Applied Mathematics and Theoretical Physics, University of Cambridge, Centre for Mathematical Sciences, Wilberforce Road, Cambridge CB3 0WA, UK.

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http://dx.doi.org/10.1186/gb-2007-8-10-r228DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2246302PMC
May 2008

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

Genome Biol 2007 ;8(10):R215

Breast Cancer Functional Genomics, Cancer Research UK Cambridge Research Institute and Department of Oncology University of Cambridge, Li Ka-Shing Centre, Robinson Way, Cambridge CB2 0RE, UK.

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http://dx.doi.org/10.1186/gb-2007-8-10-r215DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2246289PMC
May 2008

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

BMC Bioinformatics 2007 Jan 25;8:26. Epub 2007 Jan 25.

Department of Oncology, University of Cambridge, Cambridge, UK.

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http://dx.doi.org/10.1186/1471-2105-8-26DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1797192PMC
January 2007

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

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

Department of Pathology, Division of Molecular Histopathology, Addenbrooke's Hospital Hills Road, Cambridge CB2 2XZ, UK.

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http://dx.doi.org/10.1093/nar/gkl551DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1635254PMC
December 2006

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

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

Department of Biochemistry, Hutchison/Medical Research Council Research Centre, University of Cambridge, 80 Tennis Court Road, Cambridge, United Kingdom.

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http://dx.doi.org/10.1158/0008-5472.CAN-05-2999DOI Listing
August 2006