Causal gene discovery methods are often evaluated using gold-standard (GS) sets of causal genes. However, GS gene sets are always incomplete, leading to mis-estimation of …
C Barlier, MM Ribeiro, S Jung, A del Sol - bioRxiv, 2022 - biorxiv.org
The dysregulation of regulatory mechanisms due to Single Nucleotide Polymorphisms (SNPs) can lead to diseases and does not affect all cell (sub) types equally. Current …
Genomic biobanks provide valuable resources for studying how genetic variation affects phenotypic differences and disease susceptibility, driving advancements in human health …
JBG Walsh, AM Dahlin, JL Wiemels - 2023 - scholar.archive.org
Background: While recent sequencing studies have revealed that 10% of childhood gliomas are caused by rare germline mutations, the role of common variants is undetermined and no …
In the field of complex genetics, the use of genome wide association studies (GWAS) to discover genetic variants associated with complex traits and disease has been extremely …
In genetic studies, understanding the genetic basis underlying complex traits takes center stage. Modern high-throughput technologies have empowered researchers to generate …
Systematic assessment of the genetic architecture of type 2 diabetes (T2D) has allowed the identification of hundreds of genetic loci contributing to T2D risk. However, understanding …
L Mangnier, I Ruczinski, J Ricard, C Moreau, S Girard… - bioRxiv, 2022 - biorxiv.org
A large proportion of genetic variations involved in complex diseases are rare and located within non-coding regions, making the interpretation of underlying biological mechanisms a …
La sepsis es un proceso patológico de respuesta desregulada a una infección. Los casos graves de sepsis pueden desembocar en shock séptico, que se relaciona con una elevada …