[HTML][HTML] Next generation protein structure predictions and genetic variant interpretation

GD Diwan, JC Gonzalez-Sanchez, G Apic… - Journal of molecular …, 2021 - Elsevier
The need to make sense of the thousands of genetic variants uncovered every day in terms
of pathology or biological mechanism is acute. Many insights into how genetic changes …

Overview of methods for characterization and visualization of a protein–protein interaction network in a multi-omics integration context

V Robin, A Bodein, MP Scott-Boyer… - Frontiers in Molecular …, 2022 - frontiersin.org
At the heart of the cellular machinery through the regulation of cellular functions, protein–
protein interactions (PPIs) have a significant role. PPIs can be analyzed with network …

EXPANSION: a webserver to explore the functional consequences of protein-coding alternative splice variants in cancer genomics

C Arora, N De Oliveira Rosa, M Matic… - Bioinformatics …, 2023 - academic.oup.com
Abstract Summary EXPANSION (https://expansion. bioinfolab. sns. it/) is an integrated web-
server to explore the functional consequences of protein-coding alternative splice variants …

PROTEORIZER: A holistic approach to untangle functional consequences of variants of unknown significance.

T Schmenger, G Diwan, RB Russell - bioRxiv, 2024 - biorxiv.org
Most in silico tools only use data closely related to the gene-of-interest or initial research
question. This gene-focused research is prone to ignoring low-count and rare variants in the …

Developing targeted therapies for pediatric PFA ependymoma

AL Jenseit - 2024 - archiv.ub.uni-heidelberg.de
PFA ependymomas are highly aggressive brain tumors typically arising in young children
(median age 3 years) and characterized by a poor outcome (10-year OS< 60%). Standard of …

Assessing functional impact of amino acid alterations in proteins

JC Gonzalez Sanchez - 2022 - archiv.ub.uni-heidelberg.de
Genome sequencing efforts, coupled with technological advances and cost reductions, have
led to the discovery of an increasing number of disease-related genetic variants. For the vast …