Damaging missense variants in IGF1R implicate a role for IGF-1 resistance in the etiology of type 2 diabetes [0.03%]
IGF1R中的有害错义变异表明IGF-1耐药性在2型糖尿病的病因中起作用
Eugene J Gardner,Katherine A Kentistou,Stasa Stankovic et al.
Eugene J Gardner et al.
Type 2 diabetes (T2D) is a heritable metabolic disorder. While population studies have identified hundreds of common genetic variants associated with T2D, the role of rare (frequency < 0.1%) protein-coding variation is less clear. We perfor...
Altered and allele-specific open chromatin landscape reveals epigenetic and genetic regulators of innate immunity in COVID-19 [0.03%]
改变和等位基因特异性开放染色质景观揭示了COVID-19中先天免疫的表观遗传和遗传调节因子
Bowen Zhang,Zhenhua Zhang,Valerie A C M Koeken et al.
Bowen Zhang et al.
Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection causes severe COVID-19 in some patients and mild COVID-19 in others. Dysfunctional innate immune responses have been identified to contribute to COVID-19 severity, but t...
Single-cell genome-wide association reveals that a nonsynonymous variant in ERAP1 confers increased susceptibility to influenza virus [0.03%]
单细胞全基因组关联揭示了ERAP1基因中的一个错义变异会增加流感病毒的易感性
Benjamin H Schott,Liuyang Wang,Xinyu Zhu et al.
Benjamin H Schott et al.
During pandemics, individuals exhibit differences in risk and clinical outcomes. Here, we developed single-cell high-throughput human in vitro susceptibility testing (scHi-HOST), a method for rapidly identifying genetic variants that confer...
Prophage-encoded immune evasion factors are critical for Staphylococcus aureus host infection, switching, and adaptation [0.03%]
前噬菌体编码的免疫逃逸因子对金黄色葡萄球菌宿主感染、转换和适应起着关键作用
Chrispin Chaguza,Joshua T Smith,Spencer A Bruce et al.
Chrispin Chaguza et al.
Staphylococcus aureus is a multi-host pathogen that causes infections in animals and humans globally. The specific genetic loci-and the extent to which they drive cross-species switching, transmissibility, and adaptation-are not well unders...
Justin Wagner,Nathan D Olson,Lindsay Harris et al.
Justin Wagner et al.
Genome in a Bottle benchmarks are widely used to help validate clinical sequencing pipelines and develop variant calling and sequencing methods. Here we use accurate linked and long reads to expand benchmarks in 7 samples to include difficu...
Spatial intra-tumor heterogeneity is associated with survival of lung adenocarcinoma patients [0.03%]
空间肿瘤内异质性与肺腺癌患者的生存率相关
Hua-Jun Wu,Daniel Temko,Zoltan Maliga et al.
Hua-Jun Wu et al.
Intra-tumor heterogeneity (ITH) of human tumors is important for tumor progression, treatment response, and drug resistance. However, the spatial distribution of ITH remains incompletely understood. Here, we present spatial analysis of ITH ...
Uganda Genome Resource: A rich research database for genomic studies of communicable and non-communicable diseases in Africa [0.03%]
乌干达基因资源：非洲地区关于传染性和非传染性疾病基因组研究的丰富数据库
Segun Fatumo,Joseph Mugisha,Opeyemi S Soremekun et al.
Segun Fatumo et al.
The Uganda Genome Resource (UGR) is a well-characterized genomic database with a range of phenotypic communicable and non-communicable diseases and risk factors generated from the Uganda General Population Cohort (GPC), a population-based o...
Proteome-wide Mendelian randomization in global biobank meta-analysis reveals multi-ancestry drug targets for common diseases [0.03%]
全球生物库元分析中的全蛋白质组Mendelian随机化揭示了常见疾病的多祖先药物靶标
Huiling Zhao,Humaria Rasheed,Therese Haugdahl Nøst et al.
Huiling Zhao et al.
Proteome-wide Mendelian randomization (MR) shows value in prioritizing drug targets in Europeans but with limited evidence in other ancestries. Here, we present a multi-ancestry proteome-wide MR analysis based on cross-population data from ...
Uncovering novel mutational signatures by de novo extraction with SigProfilerExtractor [0.03%]
通过SigProfilerExtractor全新提取功能揭示新型突变签名
S M Ashiqul Islam,Marcos Díaz-Gay,Yang Wu et al.
S M Ashiqul Islam et al.
Mutational signature analysis is commonly performed in cancer genomic studies. Here, we present SigProfilerExtractor, an automated tool for de novo extraction of mutational signatures, and benchmark it against another 13 bioinformatics tool...
Dual genome-wide coding and lncRNA screens in neural induction of induced pluripotent stem cells [0.03%]
诱导多能干细胞神经元诱导的双基因组编码和长非编码rna筛选
David Wu,Aunoy Poddar,Elpiniki Ninou et al.
David Wu et al.
Human chromosomes are pervasively transcribed, but systematic understanding of coding and lncRNA genome function in cell differentiation is lacking. Using CRISPR interference (CRISPRi) in human induced pluripotent stem cells, we performed d...