Karol Estrada

The paper establishes a global consortium to discover rare genetic associations by integrating data from multiple biobanks, identifying 514 gene-trait associations, many detectable only through cross-ancestry meta-analysis.

The paper performs whole exome sequencing on 44,028 British South Asians to identify gene-phenotype associations and knockout genes, finding novel links and implications for drug development.

This paper evaluates a deep learning method for ab initio gene detection using structural profiles of genomic sequences, showing improved performance over an existing tool.

This study identifies 1,242 novel genetic variants and 31 novel genes associated with frailty through genome-wide association and proteomics integration.

This study conducts a genome-wide meta-analysis across three biobanks to identify new genetic loci associated with lumbar disc herniation, expanding the known genetic landscape.

The paper investigates the functional consequences of SLC6A1 variants, finding haploinsufficiency underlies neurodevelopmental phenotypes and identifying missense residues sensitive to substitution.

Meta-analysing UK Biobank family-history GWAS with diagnosed-AD GWAS yields 37 loci, four novel (NCK2, TSPAN14, SPRED2, CCDC6); fine-mapping, colocalisation and network scoring prioritize causal genes.

This paper uses Mendelian randomization and colocalization to identify causal relationships between plasma proteins and disease phenotypes, finding 111 putatively causal effects.

The paper identifies bidirectional effect genes associated with short stature using GWAS data and validates their therapeutic potential through functional assays and clinical trial success.

This study uses deep neural networks to predict late-onset Alzheimer’s disease from genetic variants, showing promise for clinical diagnosis.

This study identifies two genome-wide significant variants associated with Parkinson's disease progression and replicates known risk variants' effects on motor and cognitive decline.

Coexpression meta-analysis of 2114 human brain RNA-seq samples across the AMP-AD consortium identifies five consensus Alzheimer's disease transcriptional clusters, including two sex-heterogeneous clusters and a previously unreported proteostasis cluster.

This study identifies novel HPE genes and oligogenic inheritance patterns in holoprosencephaly by integrating clinical data with exome sequencing and gene prioritization.

This paper analyzes protein-coding genetic variation in 60,706 humans to catalog diversity, assess pathogenicity, and identify genes under strong selection.