{"id":497,"title":"A framework for genome-wide characterization of DNA methylation and variant effect prediction","title_zh":"全基因组DNA甲基化表征与变异效应预测框架","url":"https://doi.org/10.1038/s41588-026-02807-4","doi":"10.1038/s41588-026-02807-4","pmid":null,"journal":"Nature Genetics","kind":"paper","lang":"en","published_at":"2026-11-03T00:00:00+00:00","fetched_at":"2026-11-08T03:45:21+00:00","authors":["Weiguang Mao","Kathleen M. Chen","Christopher Y. Park","Chandra L. Theesfeld","Olga G. Troyanskaya"],"primary_topic":"repro-genetics","topics":[{"slug":"repro-genetics","score":3.0,"hits":["dna methylation"]}],"topic_score":3.0,"preference_score":0.0,"preference_labels":[],"llm_score":68.0,"final_score":76.0,"score_dims":{"novelty":78,"rigor":65,"impact":70,"relevance":40,"translation":45},"recommend_reason":"提出可用于非编码变异功能解读的甲基化-变异整合框架，方法学新颖且发表于Nature Genetics，对生殖/胚胎表观遗传变异研究有潜在借鉴；但无摘要、非直接生殖临床主题，需读全文确认验证强度。","keywords":["DNA甲基化","变异效应预测","全基因组","非编码变异","表观遗传学","方法学框架"],"selected":1,"story_id":116,"llm_provider":"deepseek","llm_model":"deepseek-flash","llm_effort":"low","source_key":"crossref-cns","source_name":"Crossref · CNS 与大子刊新上线（领域过滤）","source_tier":1,"mention_count":1,"has_interpretation":false,"journal_key":"nat-genet","journal_tier":"cns-sub","journal_if":31.7,"is_mock":false,"summary_zh":"该文在Nature Genetics提出一个全基因组DNA甲基化表征与遗传变异效应预测的框架，作者为Mao、Chen、Park、Theesfeld与Troyanskaya。因条目未提供摘要，无法获知具体数据、模型与验证结果；从标题看，方法旨在整合甲基化图谱与变异效应预测，提升非编码变异功能解读能力。对生殖与胚胎表观遗传研究具潜在方法学参考，但尚需原文评估其样本、统计与外部验证。","summary":"","interpretation_basis":null,"fulltext_status":null,"interpretation":null,"fulltext":{"available":false,"status":null,"reason":"尚未抓取全文（未入选、分数未达阈值，或还没跑 fulltext 步骤）","pmcid":null,"license":null,"chars":0,"source":null,"fetched_at":null}}