In the era of “big data”, recent developments in the area of information and communication
technologies (ICT) are facilitating organizations to innovate and grow. These technological …

Estimating the effects of variants found in disease driver genes opens the door to
personalized therapeutic opportunities. Clinical associations and laboratory experiments …

The Omicron variant of the severe acute respiratory syndrome coronavirus 2 (SARS‐CoV‐2)
has now spread throughout the world. We used computational tools to assess the spike …

The vast majority of coding variants are rare, and assessment of the contribution of rare
variants to complex traits is hampered by low statistical power and limited functional data …

Mutations in superoxide dismutase 1 gene (SOD1) are linked to amyotrophic lateral
sclerosis (ALS), a neurodegenerative disorder predominantly affecting upper and lower …

Elucidating the effects of naturally occurring genetic variation is one of the major challenges
for personalized health and personalized medicine. Here, we introduce SNAP2, a novel …

Genetic studies have established anaplastic lymphoma kinase (ALK), a cell surface receptor
tyrosine kinase, as a tractable molecular target in neuroblastoma. We describe …

Acute myeloid leukemia (AML) with t (8; 21) or inv (16) have been recognized as unique
entities within AML and are usually reported together as core binding factor AML (CBF …

Prioritizing missense variants for further experimental investigation is a key challenge in
current sequencing studies for exploring complex and Mendelian diseases. A large number …

The poverty of disease resistance gene reservoirs limits the breeding of crops for durable
resistance against evolutionary dynamic pathogens. Zymoseptoria tritici which causes …