[HTML][HTML] From function to translation: Decoding genetic susceptibility to human diseases via artificial intelligence
While genome-wide association studies (GWAS) have discovered thousands of disease-
associated loci, molecular mechanisms for a considerable fraction of the loci remain to be …
associated loci, molecular mechanisms for a considerable fraction of the loci remain to be …
[HTML][HTML] Hygieia: AI/ML pipeline integrating healthcare and genomics data to investigate genes associated with targeted disorders and predict disease
Due to the advancements in sequencing technologies, genomics data is developing at an
unmatched pace and levels to foster translational research. Over ten million genomics …
unmatched pace and levels to foster translational research. Over ten million genomics …
The landscape of GWAS validation; systematic review identifying 309 validated non-coding variants across 130 human diseases
AJ Alsheikh, S Wollenhaupt, EA King, J Reeb… - BMC medical …, 2022 - Springer
Background The remarkable growth of genome-wide association studies (GWAS) has
created a critical need to experimentally validate the disease-associated variants, 90% of …
created a critical need to experimentally validate the disease-associated variants, 90% of …
The post-GWAS era: from association to function
MD Gallagher, AS Chen-Plotkin - The American Journal of Human …, 2018 - cell.com
During the past 12 years, genome-wide association studies (GWASs) have uncovered
thousands of genetic variants that influence risk for complex human traits and diseases. Yet …
thousands of genetic variants that influence risk for complex human traits and diseases. Yet …
From GWAS to function: using functional genomics to identify the mechanisms underlying complex diseases
E Cano-Gamez, G Trynka - Frontiers in genetics, 2020 - frontiersin.org
Genome-wide association studies (GWAS) have successfully mapped thousands of loci
associated with complex traits. These associations could reveal the molecular mechanisms …
associated with complex traits. These associations could reveal the molecular mechanisms …
Reaching the end-game for GWAS: machine learning approaches for the prioritization of complex disease loci
Genome-wide association studies (GWAS) have revealed thousands of genetic loci that
underpin the complex biology of many human traits. However, the strength of GWAS–the …
underpin the complex biology of many human traits. However, the strength of GWAS–the …
GWAS4D: multidimensional analysis of context-specific regulatory variant for human complex diseases and traits
Genome-wide association studies have generated over thousands of susceptibility loci for
many human complex traits, and yet for most of these associations the true causal variants …
many human complex traits, and yet for most of these associations the true causal variants …
Laying a solid foundation for Manhattan–'setting the functional basis for the post-GWAS era'
Genome-wide association studies (GWAS) have identified more than 8900 genetic variants,
mainly single-nucleotide polymorphisms (SNPs), associated with hundreds of human traits …
mainly single-nucleotide polymorphisms (SNPs), associated with hundreds of human traits …
Beyond GWASs: illuminating the dark road from association to function
Genome-wide association studies (GWASs) have enabled the discovery of common genetic
variation contributing to normal and pathological traits and clinical drug responses, but …
variation contributing to normal and pathological traits and clinical drug responses, but …
Predicting regulatory variants using a dense epigenomic mapped CNN model elucidated the molecular basis of trait-tissue associations
Assessing the causal tissues of human complex diseases is important for the prioritization of
trait-associated genetic variants. Yet, the biological underpinnings of trait-associated …
trait-associated genetic variants. Yet, the biological underpinnings of trait-associated …