The Michigan Genomics Initiative: A biobank linking genotypes and electronic clinical records in Michigan Medicine patients [0.03%]
密歇根基因组计划：一个生物样本库，将密歇根医学患者的基因型和电子病历联系起来
Matthew Zawistowski,Lars G Fritsche,Anita Pandit et al.
Matthew Zawistowski et al.
Biobanks of linked clinical patient histories and biological samples are an efficient strategy to generate large cohorts for modern genetics research. Biobank recruitment varies by factors such as geographic catchment and sampling strategy,...
Reactive gene curation to support interpretation and reporting of a clinical genome test for rare disease: Experience from over 1,000 cases [0.03%]
用于罕见病临床基因组检测解读和报告的响应式基因注释：千余份案例的工作体会
Amanda R Clause,Julie P Taylor,Revathi Rajkumar et al.
Amanda R Clause et al.
Current standards in clinical genetics recognize the need to establish the validity of gene-disease relationships as a first step in the interpretation of sequence variants. We describe our experience incorporating the ClinGen Gene-Disease ...
Genetic adaptation to pathogens and increased risk of inflammatory disorders in post-Neolithic Europe [0.03%]
遗传适应与病原体在新石器时代的欧洲后与炎症性疾病风险增加的遗传适应
Gaspard Kerner,Anna-Lena Neehus,Quentin Philippot et al.
Gaspard Kerner et al.
Ancient genomics can directly detect human genetic adaptation to environmental cues. However, it remains unclear how pathogens have exerted selective pressures on human genome diversity across different epochs and affected present-day infla...
The shared genetic landscape of blood cell traits and risk of neurological and psychiatric disorders [0.03%]
血液细胞特征与神经和精神疾病风险的共享遗传景观
Yuanhao Yang,Yuan Zhou,Dale R Nyholt et al.
Yuanhao Yang et al.
Phenotypic associations have been reported between blood cell traits (BCTs) and a range of neurological and psychiatric disorders (NPDs), but in most cases, it remains unclear whether these associations have a genetic basis and, if so, to w...
The human inactive X chromosome modulates expression of the active X chromosome [0.03%]
人类的失活X染色体调节活性X染色体的表达
Adrianna K San Roman,Alexander K Godfrey,Helen Skaletsky et al.
Adrianna K San Roman et al.
The "inactive" X chromosome (Xi) has been assumed to have little impact, in trans, on the "active" X (Xa). To test this, we quantified Xi and Xa gene expression in individuals with one Xa and zero to three Xis. Our linear modeling revealed ...
ClonoCluster: A method for using clonal origin to inform transcriptome clustering [0.03%]
克隆群集：一种利用克隆起源划分转录组亚群的方法
Lee P Richman,Yogesh Goyal,Connie L Jiang et al.
Lee P Richman et al.
Clustering cells based on their high-dimensional profiles is an important data reduction process by which researchers infer distinct cellular states. The advent of cellular barcoding, however, provides an alternative means by which to group...
Remote visualization of large-scale genomic alignments for collaborative clinical research and diagnosis of rare diseases [0.03%]
罕见疾病临床研究和诊断的大规模基因组比对的远程可视化技术
Alberto Corvò,Leslie Matalonga,Dylan Spalding et al.
Alberto Corvò et al.
The Solve-RD project objectives include solving undiagnosed rare diseases (RD) through collaborative research on shared genome-phenome datasets. The RD-Connect Genome-Phenome Analysis Platform (GPAP), for data collation and analysis, and th...
CNest: A novel copy number association discovery method uncovers 862 new associations from 200,629 whole-exome sequence datasets in the UK Biobank [0.03%]
CNest：一种新的拷贝数关联发现方法，从英国生物银行的200,629个外显子组测序数据集中发现了862种新关联
Tomas Fitzgerald,Ewan Birney
Tomas Fitzgerald
Copy number variation (CNV) is known to influence human traits, having a rich history of research into common and rare genetic disease, and although CNV is accepted as an important class of genomic variation, progress on copy-number-based g...
Functional repertoire convergence of distantly related eukaryotic plankton lineages abundant in the sunlit ocean [0.03%]
遥远亲缘关系的浮游生物谱系在阳光海洋中的功能谱系收敛性研究
Tom O Delmont,Morgan Gaia,Damien D Hinsinger et al.
Tom O Delmont et al.
Marine planktonic eukaryotes play critical roles in global biogeochemical cycles and climate. However, their poor representation in culture collections limits our understanding of the evolutionary history and genomic underpinnings of plankt...
Ramon Massana,David López-Escardó
Ramon Massana
Environmental community sequencing is suitable for producing metagenome assembled genomes (MAGs) of prokaryotes, but there is the perception that it cannot work for eukaryotes. In this issue of Cell Genomics, Delmont et al1 process a massiv...