Publications by authors named "Haohui Luo"

Article Synopsis
  • - Tumorigenesis is caused by the dysfunction of cancer genes, leading to unchecked cell growth, and creating a comprehensive cancer gene catalogue can enable more precise cancer treatments (precision oncology).
  • - The study introduces IMVRL-GCN, a novel interpretable representation learning framework that effectively integrates multiview data to improve cancer gene identification, outperforming existing methods.
  • - This framework identified 74 new high-confidence cancer genes and revealed that different types of data representations (shared, mutation-specific, and structure-specific) play crucial roles in distinguishing cancer genes, offering insights for tailored treatment strategies involving specific drugs and gene interactions.
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Pacific Biosciences (PacBio) HiFi sequencing technology generates long reads (>10 kbp) with very high accuracy (<0.01% sequencing error). Although several de novo assembly tools are available for HiFi reads, there are no comprehensive studies on the evaluation of these assemblers.

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Multi-nucleotide variants (MNVs) are defined as clusters of two or more nearby variants existing on the same haplotype in an individual. Recent studies have identified millions of MNVs in human populations, but their functions remain largely unknown. Numerous studies have demonstrated that single-nucleotide variants could serve as quantitative trait loci (QTLs) by affecting molecular phenotypes.

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Article Synopsis
  • Long non-coding RNAs (lncRNAs) are important regulators in various biological processes and diseases, which are being studied through a growing database called lncRNASNP.
  • The latest update, lncRNASNP v3, has significantly increased its data on single nucleotide polymorphisms (SNPs) and mutations in lncRNAs, now including over 67 million SNPs and expanded coverage to eight different eukaryotic species.
  • New features in the latest version include insights into SNP impacts on lncRNA interactions, expression profiles, and associations with diseases, all accessible for free online.
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Due to the high complexity of cancer genome, it is too difficult to generate complete cancer genome map which contains the sequence of every DNA molecule until now. Nevertheless, phasing each chromosome in cancer genome into two haplotypes according to germline mutations provides a suboptimal solution to understand cancer genome. However, phasing cancer genome is also a challenging problem, due to the limit in experimental and computational technologies.

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