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  1. Article

    Open Access

    Recurrent miscalling of missense variation from short-read genome sequence data

    Short-read resequencing of genomes produces abundant information of the genetic variation of individuals. Due to their numerous nature, these variants are rarely exhaustively validated. Furthermore, low levels...

    Matthew A. Field, Gaetan Burgio, Aaron Chuah, Jalila Al Shekaili in BMC Genomics (2019)

  2. Article

    Open Access

    Functional rare and low frequency variants in BLK and BANK1 contribute to human lupus

    Systemic lupus erythematosus (SLE) is the prototypic systemic autoimmune disease. It is thought that many common variant gene loci of weak effect act additively to predispose to common autoimmune diseases, whi...

    Simon H. Jiang, Vicki Athanasopoulos, Julia I. Ellyard in Nature Communications (2019)

  3. Article

    Open Access

    Correction to: Tissue and cell-specific transcriptomes in cotton reveal the subtleties of gene regulation underlying the diversity of plant secondary cell walls

    Upon publication of the original article [1], the authors had flagged that Fig. 1 had been published twice, as both Fig. 1 and Additional file 3.

    Colleen P. MacMillan, Hannah Birke, Aaron Chuah, Elizabeth Brill in BMC Genomics (2018)

  4. Article

    Open Access

    Tissue and cell-specific transcriptomes in cotton reveal the subtleties of gene regulation underlying the diversity of plant secondary cell walls

    Knowledge of plant secondary cell wall (SCW) regulation and deposition is mainly based on the Arabidopsis model of a ‘typical’ lignocellulosic SCW. However, SCWs in other plants can vary from this. The SCW of ...

    Colleen P. MacMillan, Hannah Birke, Aaron Chuah, Elizabeth Brill in BMC Genomics (2017)

  5. Article

    Open Access

    Genoty** of whole genome amplified reduced representation libraries reveals a cryptic population of Culicoides brevitarsis in the Northern Territory, Australia

    The advent of genoty** by Next Generation Sequencing has enabled rapid discovery of thousands of single nucleotide polymorphism (SNP) markers and high throughput genoty** of large populations at an afforda...

    Maria G. Onyango, Nicola C. Aitken, Cameron Jack, Aaron Chuah, James Oguya in BMC Genomics (2016)

  6. Article

    Open Access

    Novel and rare functional genomic variants in multiple autoimmune syndrome and Sjögren’s syndrome

    Multiple autoimmune syndrome (MAS), an extreme phenotype of autoimmune disorders, is a very well suited trait to tackle genomic variants of these conditions. Whole exome sequencing (WES) is a widely used strat...

    Angad S Johar, Claudio Mastronardi in Journal of Translational Medicine (2015)

  7. No Access

    Article

    Small RNA changes en route to distinct cellular states of induced pluripotency

    MicroRNAs (miRNAs) are critical to somatic cell reprogramming into induced pluripotent stem cells (iPSCs), however, exactly how miRNA expression changes support the transition to pluripotency requires further ...

    Jennifer L. Clancy, Hardip R. Patel, Samer M. I. Hussein in Nature Communications (2014)

  8. Article

    Open Access

    A format for databasing and comparison of AFLP fingerprint profiles

    Amplified fragment length polymorphism (AFLP) is a PCR-based technique that involves restriction of genomic DNA followed by ligation of adaptors to the fragments generated and selective PCR amplification of a ...

    Yan Hong, Aaron Chuah in BMC Bioinformatics (2003)