Targeted long-read sequencing facilitates phased diploid assembly and genotyping of the human T cell receptor alpha, delta, and beta loci [0.03%]
目标长读取测序促进了人类T细胞受体alpha、delta和beta基因座的染色体成相二倍体组装和基因型检测
Oscar L Rodriguez,Catherine A Silver,Kaitlyn Shields et al.
Oscar L Rodriguez et al.
T cell receptors (TCRs) recognize peptide fragments presented by the major histocompatibility complex (MHC) and are critical to T cell-mediated immunity. Recent data have indicated that genetic diversity within TCR-encoding gene regions is ...
A template for multitudes: Germline immune polymorphism of the T cell receptor loci [0.03%]
模板与多样性：T细胞受体基因位点的生殖系免疫多态性
Loren Gragert
Loren Gragert
Short-read next-generation sequencing has failed to adequately genotype the T cell receptor (TCR) loci, limiting our ability to characterize the role of germline TCR variation. In this issue of Cell Genomics, Rodriguez et al.1 describe how ...
Type 1 diabetes risk genes mediate pancreatic beta cell survival in response to proinflammatory cytokines [0.03%]
1型糖尿病风险基因介导了胰岛β细胞在促炎症因子作用下发生凋亡的表型
Paola Benaglio,Han Zhu,Mei-Lin Okino et al.
Paola Benaglio et al.
We combined functional genomics and human genetics to investigate processes that affect type 1 diabetes (T1D) risk by mediating beta cell survival in response to proinflammatory cytokines. We mapped 38,931 cytokine-responsive candidate cis-...
A practical guideline of genomics-driven drug discovery in the era of global biobank meta-analysis [0.03%]
基因组时代生物库荟萃分析下的药物发现指导方针
Shinichi Namba,Takahiro Konuma,Kuan-Han Wu et al.
Shinichi Namba et al.
Genomics-driven drug discovery is indispensable for accelerating the development of novel therapeutic targets. However, the drug discovery framework based on evidence from genome-wide association studies (GWASs) has not been established, es...
Laura M Zahn
Laura M Zahn
Genome-wide study on 72,298 individuals in Korean biobank data for 76 traits [0.03%]
基于韩国生物银行数据的全基因组研究（涉及72,298人的76种性状）
Kisung Nam,Jangho Kim,Seunggeun Lee
Kisung Nam
Genome-wide association studies (GWAS) on diverse ancestry groups are lacking, resulting in deficits of genetic discoveries and polygenic scores. We conducted GWAS for 76 phenotypes in Korean biobank data, namely the Korean Genome and Epide...
Ben M Brumpton,Sarah Graham,Ida Surakka et al.
Ben M Brumpton et al.
The Trøndelag Health Study (HUNT) is a population-based cohort of ∼229,000 individuals recruited in four waves beginning in 1984 in Trøndelag County, Norway. Approximately 88,000 of these individuals have available genetic data from arra...
Leveraging global multi-ancestry meta-analysis in the study of idiopathic pulmonary fibrosis genetics [0.03%]
利用全球多祖先Meta分析研究特发性肺纤维化遗传学
Juulia J Partanen,Paavo Häppölä,Wei Zhou et al.
Juulia J Partanen et al.
The research of rare and devastating orphan diseases, such as idiopathic pulmonary fibrosis (IPF) has been limited by the rarity of the disease itself. The prognosis is poor-the prevalence of IPF is only approximately four times the inciden...
Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease [0.03%]
全球生物样本库元分析计划：推动全人类疾病的基因组发现
Wei Zhou,Masahiro Kanai,Kuan-Han H Wu et al.
Wei Zhou et al.
Biobanks facilitate genome-wide association studies (GWASs), which have mapped genomic loci across a range of human diseases and traits. However, most biobanks are primarily composed of individuals of European ancestry. We introduce the Glo...
In this Voices, we asked our scientific advisory board members to discuss the key technological developments that have shaped genomics and life sciences as well as their technology wish lists for the next decade. ...