Dr Whitney Whitford

MSc Biology, BSc Biomedical Sciences

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Research Fellow

Research | Current

Investigating the bioinformatic identification of Copy Number Variants and other Structural Variants from genome sequence data

Selected publications and creative works (Research Outputs)

As of 29 October 2020 there will be no automatic updating of 'selected publications and creative works' from Research Outputs. Please continue to keep your Research Outputs profile up to date.
  • Whitford, W., Lehnert, K., Snell, R. G., & Jacobsen, J. C. (2019). RBV: Read balance validator, a tool for prioritising copy number variations in germline conditions. Scientific reports, 9 (1)10.1038/s41598-019-53181-7
    Other University of Auckland co-authors: Jessie Jacobsen, Klaus Lehnert, Russell Snell
  • Webster, T. H., Couse, M., Grande, B. M., Karlins, E., Phung, T. N., Richmond, P. A., ... Wilson, M. A. (2019). Identifying, understanding, and correcting technical artifacts on the sex chromosomes in next-generation sequencing data. GigaScience, 8 (7).10.1093/gigascience/giz074
  • Whitford, W., Lehnert, K., Snell, R. G., & Jacobsen, J. C. (2019). Evaluation of the performance of copy number variant prediction tools for the detection of deletions from whole genome sequencing data. Journal of biomedical informatics, 9410.1016/j.jbi.2019.103174
    Other University of Auckland co-authors: Russell Snell, Klaus Lehnert, Jessie Jacobsen
  • Whitford, W. C. (2019). Identification of Genetic Copy Number Variants in Neurodevelopmental Disorders from Genome Sequence Data The University of Auckland. ResearchSpace@Auckland.
  • Whitford, W., Hawkins, I., Glamuzina, E., Wilson, F., Marshall, A., Ashton, F., ... Lehnert, K. (2017). Compound heterozygous SLC19A3 mutations further refine the critical promoter region for biotin-thiamine-responsive basal ganglia disease. Cold Spring Harbor Molecular Case Studies, 3 (6)10.1101/mcs.a001909
    Other University of Auckland co-authors: Jessie Jacobsen, Klaus Lehnert, Russell Snell, Don Love
  • Jacobsen, J. C., Whitford, W., Swan, B., Taylor, J., Love, D. R., Hill, R., ... Robertson, S. P. (2017). Compound heterozygous inheritance of mutations in coenzyme Q8A results in autosomal recessive cerebellar ataxia and coenzyme Q₁₀ deficiency in a female sib-pair. JIMD reports10.1007/8904_2017_73
    Other University of Auckland co-authors: Jessie Jacobsen, Russell Snell, Klaus Lehnert, Don Love
  • Aydemir, N., McArdle, H., Patel, S., Whitford, W., Evans, C. W., Travas-Sejdic, J., & Williams, D. E. (2015). A label-free, sensitive, real-time, semiquantitative electrochemical measurement method for DNA polymerase amplification (ePCR). Analytical Chemistry, 87 (10), 5189-5197. 10.1021/acs.analchem.5b00079
    Other University of Auckland co-authors: Jadranka Travas-Sejdic, David Williams
  • Whitford, W. C. (2014). Telomeres: the link between smoking, COPD and lung cancer? The University of Auckland. ResearchSpace@Auckland.
    URL: http://hdl.handle.net/2292/22584

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THOMAS BUILDING EXTENSION - Bldg 110N
Level 2, Room 2001
3A SYMONDS ST
AUCKLAND CENTRAL
AUCKLAND 1010
New Zealand

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