Publications
Discover selected research publications contributed to by our expert bioinformaticians in genomics, computational biology, and life sciences, including work completed through AnyHelix and collaborations elsewhere.
GeneRAIN: multifaceted representation of genes via deep learning of gene expression networks
Genome BiologyPublished: September 22, 2025
10.1186/s13059-025-03749-6
Age‐Related Dynamics and Spectral Characteristics of the TCRβ Repertoire in Healthy Children: Implications for Immune Aging
Aging CellPublished: April 2025
10.1111/acel.14460
Mutations in AMBRA1 aggravate β-thalassemia by impairing autophagy-mediated clearance of free α-globin
BloodPublished: December 18, 2024
10.1182/blood.2023022688
Post-transcriptional regulation supports the homeostatic expression of mature RNA
Briefings in BioinformaticsPublished: November 22, 2024
10.1093/bib/bbaf027
Whole-genome Sequencing Association Analysis of Quantitative Platelet Traits in A Large Cohort of β-thalassemia
Genomics, Proteomics & BioinformaticsPublished: September 27, 2024
10.1093/gpbjnl/qzae065
An atypical form of 60S ribosomal subunit in Diamond-Blackfan anemia linked to RPL17 variants
JCI InsightPublished: September 10, 2024
10.1172/jci.insight.172475
INDELpred: Improving the prediction and interpretation of indel pathogenicity within the clinical genome
HGG AdvancesPublished: July 10, 2024
10.1016/j.xhgg.2024.100325
Genes in Humans and Mice: Insights from Deep learning of 777K Bulk Transcriptomes
Preprint (bioRxiv)Published: April 2, 2024
10.1101/2024.04.01.587517
An efficient large‐scale whole‐genome sequencing analyses practice with an average daily analysis of 100Tbp: ZBOLT
Clinical and Translational DiscoveryPublished: December 2023
10.1002/ctd2.252
Age‐dependent changes in the gut microbiota and serum metabolome correlate with renal function and human aging
Aging CellPublished: November 27, 2023
10.1111/acel.14028
DMD-Associated Dilated Cardiomyopathy: Genotypes, Phenotypes, and Phenocopies
Circulation: Genomic and Precision MedicinePublished: October 2023
10.1161/CIRCGEN.123.004221
The STROMICS genome study: deep whole-genome sequencing and analysis of 10K Chinese patients with ischemic stroke reveal complex genetic and phenotypic interplay
Cell DiscoveryPublished: July 21, 2023
10.1038/s41421-023-00582-8
Integrated multi-omics analyses and functional validation reveal TTK as a novel EMT activator for endometrial cancer
Journal of Translational MedicinePublished: February 25, 2023
10.1186/s12967-023-03998-8
CMDB: the comprehensive population genome variation database of China
Nucleic Acids ResearchPublished: January 6, 2023
10.1093/nar/gkac638
A population-based study of precision health assessments using multi-omics network-derived biological functional modules
Cell Reports MedicinePublished: December 2022
10.1016/j.xcrm.2022.100847
VIPPID: a gene-specific single nucleotide variant pathogenicity prediction tool for primary immunodeficiency diseases
Briefings in BioinformaticsPublished: September 20, 2022
10.1093/bib/bbac176
A pilot study of assessing whole genome sequencing in newborn screening in unselected children in China
Clinical and Translational MedicinePublished: June 2022
10.1002/ctm2.843
Rare Variants in Inborn Errors of Immunity Genes Associated With Covid-19 Severity
Frontiers in Cellular and Infection MicrobiologyPublished: May 27, 2022
10.3389/fcimb.2022.888582
Identification of Potential Biomarkers for Pan-Cancer Diagnosis and Prognosis Through the Integration of Large-Scale Transcriptomic Data
Frontiers in PharmacologyPublished: May 23, 2022
10.3389/fphar.2022.870660
T Cell Repertoire Abnormality in Immunodeficiency Patients with DNA Repair and Methylation Defects
Journal of Clinical ImmunologyPublished: February 2022
10.1007/s10875-021-01178-1
Species-Level Analysis of the Human Gut Microbiome Shows Antibiotic Resistance Genes Associated With Colorectal Cancer
Frontiers in MicrobiologyPublished: December 15, 2021
10.3389/fmicb.2021.765291
RNA-seq in DMD urinary stem cells recognized muscle-related transcription signatures and addressed the identification of atypical mutations by whole-genome sequencing
HGG AdvancesPublished: August 24, 2021
10.1016/j.xhgg.2021.100054
Molecular Classification and Interpretation of Amyotrophic Lateral Sclerosis Using Deep Convolution Neural Networks and Shapley Values
GenesPublished: 2021
10.3390/genes12111754
New genetic variants associated with major adverse cardiovascular events in patients with acute coronary syndromes and treated with clopidogrel and aspirin
The Pharmacogenomics JournalPublished: 2021
10.1038/s41397-021-00245-5
Integrated genetic analyses revealed novel human longevity loci and reduced risks of multiple diseases in a cohort study of 15,651 Chinese individuals
Aging CellPublished: March 3, 2021
10.1111/acel.13323
More severe than CVID: Combined immunodeficiency due to a novel NFKB2 mutation
Pediatric Allergy and ImmunologyPublished: December 28, 2020
10.1111/pai.13441
Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries
Neurology: GeneticsPublished: December 24, 2020
10.1212/nxg.0000000000000536
Bi-Allelic Pathogenic Variations in MERTK Including Deletions Are Associated with an Early Onset Progressive Form of Retinitis Pigmentosa
GenesPublished: December 18, 2020
10.3390/genes11121517
Severe Bleeding Diathesis in Siblings with Platelet Dysfunction due to a Novel Nonsense RASGRP2 Mutation
TH OpenPublished: October 1, 2020
10.1055/s-0040-1718910
Developing an Unbiased Multiplex PCR System to Enrich the TRB Repertoire Toward Accurate Detection in Leukemia
Frontiers in ImmunologyPublished: August 6, 2020
10.3389/fimmu.2020.01631
NAXD Deficiency Associated with Perinatal Autoinflammation, Pancytopenia, Dermatitis, Colitis, and Cystic Encephalomalacia
Journal of Pediatric NeurologyPublished: July 20, 2020
10.1055/s-0040-1713682
Janus kinase inhibition in complement component 1 deficiency
Journal of Allergy and Clinical ImmunologyPublished: April 20, 2020
10.1016/j.jaci.2020.04.002
ATPase domain AFG3L2 mutations alter OPA1 processing and cause Optic Neuropathy
Annals of NeurologyPublished: March 26, 2020
10.1002/ana.25723
Clinical Implications of Experimental Analyses of AID Function on Predictive Computational Tools: Challenge of Missense Variants
Clinical GeneticsPublished: March 11, 2020
10.1111/cge.13737
Noncoding RNA transcription alters chromosomal topology to promote isotype-specific class switch recombination
Science ImmunologyPublished: February 14, 2020
10.1126/sciimmunol.aay5864
A Missense Mutation in RAB28 in a Family with Cone-Rod Dystrophy and Postaxial Polydactyly Prevents Localization of RAB28 to the Primary Cilium
Investigative Ophthalmology & Visual SciencePublished: February 1, 2020
10.1167/iovs.61.2.29
Molecular Basis of Allogeneic Pluripotent Stem Cell Treatment of a Patient with Sporadic ALS
OBM GeriatricsPublished: 2020
10.21926/obm.geriatr.2101164
Panoramic Visualization of Circulating MicroRNAs Across Neurodegenerative Diseases in Humans
Molecular NeurobiologyPublished: 2019
10.1007/s12035-019-1615-1
The gut microbiome in atherosclerotic cardiovascular disease
Nature CommunicationsPublished: 2017
10.1038/s41467-017-00900-1