From genome-wide associations to candidate causal variants by statistical fine-mapping
Advancing from statistical associations of complex traits with genetic markers to
understanding the functional genetic variants that influence traits is often a complex process …
understanding the functional genetic variants that influence traits is often a complex process …
[HTML][HTML] Bioinformatics and computational tools for next-generation sequencing analysis in clinical genetics
Clinical genetics has an important role in the healthcare system to provide a definitive
diagnosis for many rare syndromes. It also can have an influence over genetics prevention …
diagnosis for many rare syndromes. It also can have an influence over genetics prevention …
[HTML][HTML] The DisGeNET cytoscape app: Exploring and visualizing disease genomics data
Thanks to the unbiased exploration of genomic variants at large scale, hundreds of
thousands of disease-associated loci have been uncovered. In parallel, network-based …
thousands of disease-associated loci have been uncovered. In parallel, network-based …
The DisGeNET knowledge platform for disease genomics: 2019 update
J Piñero, JM Ramírez-Anguita… - Nucleic acids …, 2020 - academic.oup.com
One of the most pressing challenges in genomic medicine is to understand the role played
by genetic variation in health and disease. Thanks to the exploration of genomic variants at …
by genetic variation in health and disease. Thanks to the exploration of genomic variants at …
Network medicine framework for identifying drug-repurposing opportunities for COVID-19
D Morselli Gysi, Í Do Valle, M Zitnik… - Proceedings of the …, 2021 - National Acad Sciences
The COVID-19 pandemic has highlighted the need to quickly and reliably prioritize clinically
approved compounds for their potential effectiveness for severe acute respiratory syndrome …
approved compounds for their potential effectiveness for severe acute respiratory syndrome …
[HTML][HTML] The mutational constraint spectrum quantified from variation in 141,456 humans
Genetic variants that inactivate protein-coding genes are a powerful source of information
about the phenotypic consequences of gene disruption: genes that are crucial for the …
about the phenotypic consequences of gene disruption: genes that are crucial for the …
Variation across 141,456 human exomes and genomes reveals the spectrum of loss-of-function intolerance across human protein-coding genes
Genetic variants that inactivate protein-coding genes are a powerful source of information
about the phenotypic consequences of gene disruption: genes critical for an organism's …
about the phenotypic consequences of gene disruption: genes critical for an organism's …
Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts
It is estimated that 350 million individuals worldwide suffer from rare diseases, which are
predominantly caused by mutation in a single gene. The current molecular diagnostic rate is …
predominantly caused by mutation in a single gene. The current molecular diagnostic rate is …
[HTML][HTML] The expanding landscape of alternative splicing variation in human populations
Alternative splicing is a tightly regulated biological process by which the number of gene
products for any given gene can be greatly expanded. Genomic variants in splicing …
products for any given gene can be greatly expanded. Genomic variants in splicing …
Next generation sequencing (NGS): a revolutionary technology in pharmacogenomics and personalized medicine in cancer
S Morganti, P Tarantino, E Ferraro, P D'Amico… - … research and onco …, 2019 - Springer
Following the completion of the Human Genome Project in 2003, research in oncology has
progressively focused on the sequencing of cancer genomes, with the aim of better …
progressively focused on the sequencing of cancer genomes, with the aim of better …