Qin Huang

This study identifies the Dhh-Ptch2-Gli1-Sf1 signaling axis as critical for stem Leydig cell differentiation in Nile tilapia, showing Dhh regulates differentiation, Ptch2 acts as the receptor, Gli1 as the transcriptional effector, and Sf1 as the downstream effector.

The paper identifies 185 genome-wide significant loci associated with common diseases in a cohort of British Pakistanis and Bangladeshis with high autozygosity, focusing on recessive genetic effects.

This study estimates that ~6% of insulin-treated diabetic individuals with ambiguous features in British Pakistanis and Bangladeshis have T1D, highlighting the need for autoantibody and C-peptide testing.

This study examines how ancestry and environmental factors influence de novo mutation rates and spectra in a large whole-genome sequenced cohort, finding ancestry-related effects and a link between tobacco smoke exposure and increased mutation rates.

Cross-trait Elastic Net mixing of PGS Catalog scores (PRSmix+) lifted mean PRS accuracy 1.72-fold in Europeans and 1.42-fold in South Asians over the best single score.

The paper investigates the association between autozygosity and common diseases in multiple cohorts, finding significant links to twelve diseases and estimating autozygosity's contribution to type 2 diabetes cases.

The paper identifies PIK3R3 as a candidate regulator of platelet count in Bangladeshi ancestry individuals through GWAS and functional analysis.

The paper introduces Fit4Function, a machine learning approach to engineer AAV capsids with multiple traits, achieving high transduction efficiency and cross-species prediction.

This paper identifies AAV capsids that target specific proteins on the blood-brain barrier, enhancing CNS tropism and enabling predictable gene delivery vectors.

This paper conducts a multi-ancestry GWAS of major depression, identifying 190 loci and 354 genes, with findings showing increased fine-mapping power and bidirectional BMI relationship in European ancestry samples.

The paper identifies genetic variants linked to ovarian ageing and shows they increase offspring de novo mutation rates, demonstrating heritability of female mutation rate.

This study identifies 5,552 blood-cell trait-variant associations across 746,667 individuals from 5 global populations, including 71 novel loci and ancestry-specific variants not found in European ancestry populations.

The paper identifies LY6A as a novel receptor for AAV-PHP.B vectors, enabling efficient gene delivery across the blood-brain barrier in mice.

This study identifies genetic variants with pleiotropic effects on cytokines and related traits using a multivariate genome-wide association analysis.