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  • Agne Antanaviciute, Christopher M. Watson, +5 authors Ian M. Carr
  • Computer Science, Medicine
  • Bioinformatics
  • 2015 (First Published: 12 August 2015)
  • MOTIVATION Exome sequencing has become a de facto standard method for Mendelian disease gene discovery in recent years, yet identifying disease-causing mutations among thousands of candidate variantsContinue Reading
  • Christopher M. Watson, Laura A. Crinnion, +7 authors David T. Bonthron
  • Biology, Medicine
  • BMC Medical Genetics
  • 2015 (First Published: 1 December 2016)
  • BackgroundThe widespread adoption of high-throughput sequencing technologies by genetic diagnostic laboratories has enabled significant expansion of their testing portfolios. Rare autosomal recessiveContinue Reading
  • Belinda Baquero-Perez, Agne Antanaviciute, Ivaylo D Yonchev, Ian M. Carr, Stuart A. Wilson, Adrian Whitehouse
  • Biology, Medicine
  • eLife
  • 2019 (First Published: 24 October 2019)
  • N6-methyladenosine (m6A) is the most abundant internal RNA modification of cellular mRNAs. m6A is recognised by YTH domain-containing proteins, which selectively bind to m6A-decorated RNAs regulatingContinue Reading