All Stories

  1. How good are pathogenicity predictors in detecting benign variants?

    Article • September 2018, Cold Spring Harbor Laboratory Press

    Mr Abhishek Niroula

  2. The multiple myeloma risk allele at 5q15 lowers ELL2 expression and increases ribosomal gene expression

    Article • Nature Communications, April 2018, Springer Science + Business Media

    Mr Abhishek Niroula

  3. Working toward precision medicine: Predicting phenotypes from exomes in the Critical Assessment of Genome Interpretation (CAGI) challenges

    Article • Human Mutation, July 2017, Wiley

    Gaia Andreoletti, Mr Abhishek Niroula

  4. Performance of in silico tools for the evaluation of p16INK4a (CDKN2A) variants in CAGI

    Article • Human Mutation, May 2017, Wiley

    Dr MARIA CHIARA SCAINI, Professor Yaoqi Zhou, Mr Abhishek Niroula

  5. Predicting Severity of Disease-Causing Variants

    Article • Human Mutation, January 2017, Wiley

    Mr Abhishek Niroula

  6. Variation Interpretation Predictors: Principles, Types, Performance, and Choice

    Article • Human Mutation, April 2016, Wiley

    Mr Abhishek Niroula

  7. PON-Sol: prediction of effects of amino acid substitutions on protein solubility

    Article • Bioinformatics, February 2016, Oxford University Press (OUP)

    Mr Abhishek Niroula

  8. PON-mt-tRNA: a multifactorial probability-based method for classification of mitochondrial tRNA variations

    Article • Nucleic Acids Research, February 2016, Oxford University Press (OUP)

    Mr Abhishek Niroula

  9. Classification of Amino Acid Substitutions in Mismatch Repair Proteins Using PON-MMR2

    Article • Human Mutation, September 2015, Wiley

    Mr Abhishek Niroula

  10. Harmful somatic amino acid substitutions affect key pathways in cancers

    Article • BMC Medical Genomics, August 2015, Springer Science + Business Media

    Mr Abhishek Niroula

  11. PON-P2 for predicting pathogenicity of non-synonymous variations

    Article • PLoS ONE, February 2015, PLOS

    Mr Abhishek Niroula