PrecisionFDA Truth Challenge V2: Calling variants from short and long reads in difficult-to-map regions [0.03%]
PrecisionFDA TruthChallenge V2：在难以比对的区域从短读和长读中进行变异调用
Nathan D Olson,Justin Wagner,Jennifer McDaniel et al.
Nathan D Olson et al.
The precisionFDA Truth Challenge V2 aimed to assess the state of the art of variant calling in challenging genomic regions. Starting with FASTQs, 20 challenge participants applied their variant-calling pipelines and submitted 64 variant cal...
PrecisionFDA Truth Challenge V2: Calling variants from short and long reads in difficult-to-map regions [0.03%]
PrecisionFDA Truth Challenge V2：在难以映射的区域从短读段和长读段中调用变异特征
Nathan D Olson,Justin Wagner,Jennifer McDaniel et al.
Nathan D Olson et al.
The precisionFDA Truth Challenge V2 aimed to assess the state of the art of variant calling in challenging genomic regions. Starting with FASTQs, 20 challenge participants applied their variant-calling pipelines and submitted 64 variant cal...
SNPs, short tandem repeats, and structural variants are responsible for differential gene expression across C57BL/6 and C57BL/10 substrains [0.03%]
SNP、短串联重复序列和结构变异导致C57BL/6和C57BL/10亚系小鼠的基因表达差异
Milad Mortazavi,Yangsu Ren,Shubham Saini et al.
Milad Mortazavi et al.
Mouse substrains are an invaluable model for understanding disease. We compared C57BL/6J, which is the most commonly used inbred mouse strain, with eight C57BL/6 and five C57BL/10 closely related inbred substrains. Whole-genome sequencing a...
Population dynamics and genetic connectivity in recent chimpanzee history [0.03%]
黑猩猩种群历史动态及其基因交流状况研究进展
Claudia Fontsere,Martin Kuhlwilm,Carlos Morcillo-Suarez et al.
Claudia Fontsere et al.
Knowledge on the population history of endangered species is critical for conservation, but whole-genome data on chimpanzees (Pan troglodytes) is geographically sparse. Here, we produced the first non-invasive geolocalized catalog of genomi...
Transcriptome-wide Cas13 guide RNA design for model organisms and viral RNA pathogens [0.03%]
模型生物和病毒性rna病原体的转录组范围内的cas13导向RNA设计
Xinyi Guo,Jahan A Rahman,Hans-Hermann Wessels et al.
Xinyi Guo et al.
The recent characterization of RNA-targeting CRISPR nucleases has enabled diverse transcriptome engineering and screening applications that depend crucially on prediction and selection of optimized CRISPR guide RNAs (gRNAs). Previously, we ...
Immune disease variants modulate gene expression in regulatory CD4+ T cells [0.03%]
免疫病变异调节调控性CD4+t细胞的基因表达
Lara Bossini-Castillo,Dafni A Glinos,Natalia Kunowska et al.
Lara Bossini-Castillo et al.
Identifying cellular functions dysregulated by disease-associated variants could implicate novel pathways for drug targeting or modulation in cell therapies. However, follow-up studies can be challenging if disease-relevant cell types are d...
Genome-wide risk prediction of common diseases across ancestries in one million people [0.03%]
百万量级个体的大规模跨国度常见疾病全基因组风险预测研究
Nina Mars,Sini Kerminen,Yen-Chen A Feng et al.
Nina Mars et al.
Polygenic risk scores (PRS) measure genetic disease susceptibility by combining risk effects across the genome. For coronary artery disease (CAD), type 2 diabetes (T2D), and breast and prostate cancer, we performed cross-ancestry evaluation...
High-throughput characterization of the role of non-B DNA motifs on promoter function [0.03%]
高通量表征非Bdna基序在启动子功能中的作用
Ilias Georgakopoulos-Soares,Jesus Victorino,Guillermo E Parada et al.
Ilias Georgakopoulos-Soares et al.
lternative DNA conformations, termed non-B DNA structures, can affect transcription, but the underlying mechanisms and their functional impact have not been systematically characterized. Here, we used computational genomic analyses coupled ...
Genetic determinants of telomere length from 109,122 ancestrally diverse whole-genome sequences in TOPMed [0.03%]
千人基因组计划－人口项目(TOPMed)中109,122个具有祖先多样性的全基因组序列的端粒长度遗传决定因素
Margaret A Taub,Matthew P Conomos,Rebecca Keener et al.
Margaret A Taub et al.
Genetic studies on telomere length are important for understanding age-related diseases. Prior GWAS for leukocyte TL have been limited to European and Asian populations. Here, we report the first sequencing-based association study for TL ac...
Genetic determinants of telomere length from 109,122 ancestrally diverse whole-genome sequences in TOPMed [0.03%]
来自TOPMed的109,122个祖先多样的全基因组序列的端粒长度的遗传决定因素
Margaret A Taub,Matthew P Conomos,Rebecca Keener et al.
Margaret A Taub et al.
Genetic studies on telomere length are important for understanding age-related diseases. Prior GWAS for leukocyte TL have been limited to European and Asian populations. Here, we report the first sequencing-based association study for TL ac...