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Bhooma Thiruvahindrapuram

the centre for applied genomics
H指数:39
被引数:1.0万

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Contribution of copy number variants to schizophrenia in East Asian populations

东亚人群中拷贝数变异对精神分裂症的贡献

2026-09-110
OAAI
PangyPlot: multi-scale interactive visualization of pangenome variation graphs

PangyPlot:泛基因组变异图的多尺度交互式可视化

2026-08-180
OAAI
Benchmarking of Oxford Nanopore whole genome sequencing for germline variant and CpG methylation detection across Canada’s national platform for genome sequencing and analysis

牛津纳米孔全基因组测序在加拿大基因组测序与分析国家平台上的胚系变异和CpG甲基化检测基准测试

2026-08-120
OA
UBR5 loss-of-function variants in autism spectrum disorder and intellectual disability: case series and review of the literature

自闭症谱系障碍和智力障碍中UBR5功能丧失性变异:病例系列及文献综述

2025-11-290
OAAI
GWAS SVatalog: a visualization tool to aid fine-mapping of GWAS loci with structural variations

GWAS SVatalog:一个用于辅助GWAS位点中结构变异精细定位的可视化工具

2025-11-070
OAAI
Canadian COVID-19 host genetics cohort replicates known severity associations (vol 20, e1011192, 2024)
2025-03-010
OAAI
Chromosome X-wide common variant association study in autism spectrum disorder

孤独症谱系障碍X染色体全共变异关联研究

2025-01-011
PRE
Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy

全面的全基因组序列分析提供了对脑瘫基因组结构的见解

2024-03-297
PRE
Canadian COVID-19 host genetics cohort replicates known severity associations
2024-03-224
OAAI