ぱらぱらめくる『Nature Reviews Genetics』2020

• １細胞データに付加価値(採取場所情報、細胞間関係情報、細胞集合としての分布取得、など)を付ける話が目立つようです。
• 12月号
  • Genotype–Tissue Expression (GTEx) 最新の成果についてのコメント。GTExのポータルで検索可能
    • "The data set of 838 donors and 15,201 samples across 49 tissues"
    • "4,278,636 genetic variants were associated with gene expression. At least one associated cis expression quantitative trait locus (cis-eQTL) was identified for 94.7% of all protein-coding genes. "
  • Transposable elements (TEs)のNGS発現リードを捨てずに使う
  • エピゲノムと細胞代謝
    • "linking the environment to the maintenance of cellular homeostasis and cell identity"に関与する代謝物が広範に及ぶ由
• 11月号
  • クロマチンの3D構造解析。直接観察のスループットを上げる手法
  • データを集めやすく、かつ、複雑な表現型として、血球集合を選び、大規模遺伝因子探索
  • cell competition and super-competition were recognized in mammalian development, organ homeostasis and cancer
• 10月号
  • memory sequencing (MemorySeq), a method for identifying genes that are highly and heritably expressed over multiple cell divisions
  • Chromatin accessibility profiles and other omics data to prioritize neuropsychiatric-disease-associated genetic variants and to identify potential gene regulatory mechanisms underlying the pathology
  • 分化発生による発現パターンの違いを記述統計にとどめず、１細胞・介入で因果関係解明に持ちこむ
  • https://www.nature.com/articles/s41576-020-0272-6:genetics/genomicsの展望総説
• 9月号
  • A new study presents a spatial transcriptomics technique called ZipSeq, whereby patterned illumination is used to print barcodes onto chosen tissue regions １細胞トランスクリプトームしつつ、各細胞を取ってきた「空間情報」を失わずに取るための方法
  • 種による加齢速度の違いをエピゲノムで
  • 臓器組織別の再生可能性の違いの解明
• 8月号
  • 精子の１細胞シークエンシングによる減数分裂変異の解析
  • genetic variation for 15,708 whole genomes in addition to 125,748 exomes. The increase in sample size and inclusion of non-coding regions yielded more than 240 million small genetic variants as well as structural variation
    • gnomADのサイト
  • Electronic health records and polygenic risk scores for predicting disease risk
• 7月号
  • Lineage tracing meets single-cell omics: opportunities and challenges
  • Phylogenetic tree building in the genomic age
• 6月号
  • Higher-order chromatin structure undergoes dynamic change & chromatin dynamics and allele-specific gene expression during early mouse embryogenesis
• 5月号
  • Transcriptional profiling of physically interacting cells
• 4月号
  • Methods for mapping 3D chromosome architecture
  • ‘pan-genomes’, which are reference genomes that encompass the genetic variation within a given species
• 3月号
  • 放っておくとこういう風に進むという'default' way
  • 構造多型検出
• 2月号
  • Mosaic loss of chromosome Y (LOY)と癌や加齢性疾患との関係
  • Determinants of enhancer and promoter activities of regulatory elements
  • 加齢の遺伝学
• 1月号
  • A statistical framework for rare disease diagnosis