Performance comparison of computational methods for the prediction of the function and pathogenicity of non-coding variants
Non-coding variants in the human genome significantly influence human traits and complex
diseases via their regulation and modification effects. Hence, an increasing number of …
diseases via their regulation and modification effects. Hence, an increasing number of …
Inference through innovation processes tested in the authorship attribution task
G Tani Raffaelli, M Lalli, F Tria - Communications Physics, 2024 - nature.com
Urn models for innovation capture fundamental empirical laws shared by several real-world
processes. The so-called urn model with triggering includes, as particular cases, the urn …
processes. The so-called urn model with triggering includes, as particular cases, the urn …
Mining mutation contexts across the cancer genome to map tumor site of origin
The vast preponderance of somatic mutations in a typical cancer are either extremely rare or
have never been previously recorded in available databases that track somatic mutations …
have never been previously recorded in available databases that track somatic mutations …
More for less: predicting and maximizing genomic variant discovery via Bayesian nonparametrics
While the cost of sequencing genomes has decreased dramatically in recent years, this
expense often remains nontrivial. Under a fixed budget, scientists face a natural trade-off …
expense often remains nontrivial. Under a fixed budget, scientists face a natural trade-off …
Scaled process priors for Bayesian nonparametric estimation of the unseen genetic variation
There is a growing interest in the estimation of the number of unseen features, mostly driven
by biological applications. A recent work brought out a peculiar property of the popular …
by biological applications. A recent work brought out a peculiar property of the popular …
Genome-driven cancer site characterization: An overview of the hidden genome model
S Chakraborty - Modern Inference Based on Health-Related Markers, 2024 - Elsevier
A large and growing body of research has documented strong links between somatic
mutations and different cancer types. This has put forward an emerging field aiming to …
mutations and different cancer types. This has put forward an emerging field aiming to …
Factors related to tumor response rate from TCGA three omics data—variants, expression, methylation
HM Ahn, I Park, CG Kim, YK Ko… - Journal of Environmental …, 2024 - Taylor & Francis
Abstract The Cancer Genome Atlas (TCGA) and its patient-derived multi-omics datasets
have been the backbone of cancer research, and with novel approaches, it continues to …
have been the backbone of cancer research, and with novel approaches, it continues to …
[HTML][HTML] Human SKI component SKIV2L regulates telomeric DNA-RNA hybrids and prevents telomere fragility
E Herrera-Moyano, RM Porreca, L Ranjha, E Skourti… - Iscience, 2024 - cell.com
Super killer (SKI) complex is a well-known cytoplasmic 3′–5′ mRNA decay complex that
functions with the exosome to degrade excessive and aberrant mRNAs, is implicated with …
functions with the exosome to degrade excessive and aberrant mRNAs, is implicated with …
XCVATR: detection and characterization of variant impact on the Embeddings of single-cell and bulk RNA-sequencing samples
Background RNA-sequencing has become a standard tool for analyzing gene activity in bulk
samples and at the single-cell level. By increasing sample sizes and cell counts, this …
samples and at the single-cell level. By increasing sample sizes and cell counts, this …
Topical hidden genome: discovering latent cancer mutational topics using a Bayesian multilevel context-learning approach
Inferring the cancer-type specificities of ultra-rare, genome-wide somatic mutations is an
open problem. Traditional statistical methods cannot handle such data due to their ultra-high …
open problem. Traditional statistical methods cannot handle such data due to their ultra-high …