Genome-wide functional perturbation of human microsatellite repeats using engineered zinc finger transcription factors [0.03%]
利用工程化锌指转录因子对人类微卫星重复序列进行全基因组功能扰动
Y Esther Tak,Gaylor Boulay,Lukuo Lee et al.
Y Esther Tak et al.
Repeat elements can be dysregulated at a genome-wide scale in human diseases. For example, in Ewing sarcoma, hundreds of inert GGAA repeats can be converted into active enhancers when bound by EWS-FLI1. Here we show that fusions between EWS...
Incorporating family history of disease improves polygenic risk scores in diverse populations [0.03%]
结合疾病家族史可改善多样人群中多基因风险评分
Margaux L A Hujoel,Po-Ru Loh,Benjamin M Neale et al.
Margaux L A Hujoel et al.
Polygenic risk scores (PRSs) derived from genotype data and family history (FH) of disease provide valuable information for predicting disease risk, but PRSs perform poorly when applied to diverse populations. Here, we explore methods for c...
Three decades of ethical, legal, and social implications research: Looking back to chart a path forward [0.03%]
伦理、法律和社会影响研究三十年：回顾过去，展望未来
Deanne Dunbar Dolan,Sandra Soo-Jin Lee,Mildred K Cho
Deanne Dunbar Dolan
More than thirty years ago in the United States, the National Center for Human Genome Research (NCHGR) at the National Institutes of Health (NIH) and its partner in the Human Genome Project (HGP), the Department of Energy (DOE), called for ...
SNP-to-gene linking strategies reveal contributions of enhancer-related and candidate master-regulator genes to autoimmune disease [0.03%]
将SNP与基因相连的方法揭示了增强子相关及候选核心调节基因对自身免疫疾病的影响
Kushal K Dey,Steven Gazal,Bryce van de Geijn et al.
Kushal K Dey et al.
We assess contributions to autoimmune disease of genes whose regulation is driven by enhancer regions (enhancer-related) and genes that regulate other genes in trans (candidate master-regulator). We link these genes to SNPs using several SN...
DNA methylation dynamics and dysregulation delineated by high-throughput profiling in the mouse [0.03%]
通过高通量谱分析绘制的动态甲基化和失调小鼠基因组图谱
Wanding Zhou,Toshinori Hinoue,Bret Barnes et al.
Wanding Zhou et al.
We have developed a mouse DNA methylation array that contains 296,070 probes representing the diversity of mouse DNA methylation biology. We present a mouse methylation atlas as a rich reference resource of 1,239 DNA samples encompassing di...
Higher native Peruvian genetic ancestry proportion is associated with tuberculosis progression risk [0.03%]
较高的秘鲁人遗传祖先比例与肺结核发病风险相关
Samira Asgari,Yang Luo,Chuan-Chin Huang et al.
Samira Asgari et al.
We investigated whether ancestry-specific genetic factors affect tuberculosis (TB) progression risk in a cohort of admixed Peruvians. We genotyped 2,105 patients with TB and 1,320 household contacts (HHCs) who were infected with Mycobacteri...
Multivariate GWAS of psychiatric disorders and their cardinal symptoms reveal two dimensions of cross-cutting genetic liabilities [0.03%]
精神病障碍及其核心症状的多变量GWAS揭示了两个相互交叉的遗传易感性维度
Travis T Mallard,Richard Karlsson Linnér,Andrew D Grotzinger et al.
Travis T Mallard et al.
Understanding which biological pathways are specific versus general across diagnostic categories and levels of symptom severity is critical to improving nosology and treatment of psychopathology. Here, we combine transdiagnostic and dimensi...
Multivariate GWAS of psychiatric disorders and their cardinal symptoms reveal two dimensions of cross-cutting genetic liabilities [0.03%]
精神疾病的多变量GWAS及其主要症状揭示了两个交叉的遗传易感性维度
Travis T Mallard,Richard Karlsson Linnér,Andrew D Grotzinger et al.
Travis T Mallard et al.
Understanding which biological pathways are specific versus general across diagnostic categories and levels of symptom severity is critical to improving nosology and treatment of psychopathology. Here, we combine transdiagnostic and dimensi...
Lumping versus splitting: How to approach defining a disease to enable accurate genomic curation [0.03%]
合并与拆分：如何定义疾病以实现准确的基因组注释
Courtney Thaxton,Jennifer Goldstein,Marina DiStefano et al.
Courtney Thaxton et al.
The dilemma of how to categorize and classify diseases has been debated for centuries. The field of medical genetics has historically approached nosology based on clinical phenotypes observed in patients and families. Advances in genomic se...
Sarah B Carey,John T Lovell,Jerry Jenkins et al.
Sarah B Carey et al.
Sex chromosomes have evolved hundreds of independent times across eukaryotes. As genome sequencing, assembly, and scaffolding techniques rapidly improve, it is now feasible to build fully phased sex chromosome assemblies. Despite technologi...