京都大学 · 医学
Yasuhito Nannya教授の研究室は、がんゲノムのコピー数変異解析に特化した高精度なアルゴリズムの開発を柱としています。特に、高密度オリゴノクレオチドマイクロアレイを用いた遺伝子コピー数の正確な同定と、がんゲノムにおけるアレル的不均衡の検出を可能にする革新的な手法を確立しています。また、骨髄異形成症候群や骨髄増殖性疾患における体細胞変異やゲノム不安定性の解明を通じて、移植治療への応用をめざした臨床ゲノム研究も展開しています。
Figures are computed from collected data and may differ slightly.
We have developed a robust algorithm for copy number analysis of the human genome using high-density oligonucleotide microarrays containing 116,204 single-nucleotide polymorphisms. The advantages of this algorithm include the improvement of signal-to-noise (S/N) ratios and the use of an optimized reference. The raw S/N ratios were improved by accounting for the length and GC content of the PCR products using quadratic regressions. The use of constitutional DNA, when available, gives the lowest S
Genetic alterations, including mutations and copy-number alterations, are central to the pathogenesis of myelodysplastic syndromes and related diseases (myelodysplasia), but their roles in allogeneic stem cell transplantation have not fully been studied in a large cohort of patients. We enrolled 797 patients who had been diagnosed with myelodysplasia at initial presentation and received transplantation via the Japan Marrow Donor Program. Targeted-capture sequencing was performed to identify muta
Germ line DDX41 variants have been implicated in late-onset myeloid neoplasms (MNs). Despite an increasing number of publications, many important features of DDX41-mutated MNs remain to be elucidated. Here we performed a comprehensive characterization of DDX41-mutated MNs, enrolling a total of 346 patients with DDX41 pathogenic/likely-pathogenic (P/LP) germ line variants and/or somatic mutations from 9082 MN patients, together with 525 first-degree relatives of DDX41-mutated and wild-type (WT) p
Open papers in the app to read, cite, and organize with AI.
