FAVOR: functional annotation of variants online resource and annotator for variation across the human genome

H Zhou, T Arapoglou, X Li, Z Li, X Zheng… - Nucleic Acids …, 2023 - academic.oup.com
Large biobank-scale whole genome sequencing (WGS) studies are rapidly identifying a
multitude of coding and non-coding variants. They provide an unprecedented resource for …

Scalable approaches for functional analyses of whole-genome sequencing non-coding variants

PP Kuksa, E Greenfest-Allen, J Cifello… - Human Molecular …, 2022 - academic.oup.com
Non-coding genetic variants outside of protein-coding genome regions play an important
role in genetic and epigenetic regulation. It has become increasingly important to …

VannoPortal: multiscale functional annotation of human genetic variants for interrogating molecular mechanism of traits and diseases

D Huang, Y Zhou, X Yi, X Fan, J Wang… - Nucleic acids …, 2022 - academic.oup.com
Interpreting the molecular mechanism of genomic variations and their causal relationship
with diseases/traits are important and challenging problems in the human genetic study. To …

Revealing the association between East Asian oral microbiome and colorectal cancer through Mendelian randomization and multi-omics analysis

Y Gu, L Jiang, M Shui, H Luo, X Zhou… - Frontiers in Cellular …, 2024 - frontiersin.org
Background Colorectal cancer (CRC) poses a global health threat, with the oral microbiome
increasingly implicated in its pathogenesis. This study leverages Mendelian Randomization …

Development of genome‐wide association studies on childhood obesity and its indicators: A sco** review and enrichment analysis

F Zhou, G Tian, Y Cui, S He, Y Yan - Pediatric Obesity, 2023 - Wiley Online Library
Background The progress of genome‐wide association studies (GWAS) in childhood obesity
and its indicators is challenging and there are differences in genetic studies in children and …

QTLbase2: an enhanced catalog of human quantitative trait loci on extensive molecular phenotypes

D Huang, X Feng, H Yang, J Wang… - Nucleic Acids …, 2023 - academic.oup.com
Deciphering the fine-scale molecular mechanisms that shape the genetic effects at disease-
associated loci from genome-wide association studies (GWAS) remains challenging. The …

A genome-wide association study based on the China Kadoorie Biobank identifies genetic associations between snoring and cardiometabolic traits

Y Zhu, Z Zhuang, J Lv, D Sun, P Pei, L Yang… - Communications …, 2024 - nature.com
Despite the high prevalence of snoring in Asia, little is known about the genetic etiology of
snoring and its causal relationships with cardiometabolic traits. Based on 100,626 Chinese …

From the reference human genome to human pangenome: Premise, promise and challenge

V Singh, S Pandey, A Bhardwaj - Frontiers in Genetics, 2022 - frontiersin.org
The Reference Human Genome remains the single most important resource for map**
genetic variations and assessing their impact. However, it is monophasic, incomplete and …

TOPMed imputed genomics enhances genomic atlas of the human proteome in brain, cerebrospinal fluid, and plasma

H Yi, Q Yang, C Repaci, CM Lee, G Heo, J Timsina… - Scientific data, 2024 - nature.com
Comprehensive expression quantitative trait loci studies have been instrumental for
understanding tissue-specific gene regulation and pinpointing functional genes for disease …

Enhanced interactions among gut mycobiomes with the deterioration of glycemic control

JL He, YW Zhao, JL Yang, JM Ju, BQ Ye, JY Huang… - Med, 2024 - cell.com
Background The gut mycobiome is closely linked to health and disease; however, its role in
the progression of type 2 diabetes mellitus (T2DM) remains obscure. Here, a multi-omics …