Deciphering the impact of genomic variation on function

Code of Conduct Committee (alphabetical by last name … - Nature, 2024 - nature.com
Our genomes influence nearly every aspect of human biology—from molecular and cellular
functions to phenotypes in health and disease. Studying the differences in DNA sequence …

Humanized yeast to model human biology, disease and evolution

AH Kachroo, M Vandeloo, BM Greco… - Disease models & …, 2022 - journals.biologists.com
For decades, budding yeast, a single-cellular eukaryote, has provided remarkable insights
into human biology. Yeast and humans share several thousand genes despite …

The BioGRID interaction database: 2017 update

A Chatr-Aryamontri, R Oughtred, L Boucher… - Nucleic acids …, 2017 - academic.oup.com
Abstract The Biological General Repository for Interaction Datasets (BioGRID:
https://thebiogrid. org) is an open access database dedicated to the annotation and archival …

A consensus S. cerevisiae metabolic model Yeast8 and its ecosystem for comprehensively probing cellular metabolism

H Lu, F Li, BJ Sánchez, Z Zhu, G Li, I Domenzain… - Nature …, 2019 - nature.com
Genome-scale metabolic models (GEMs) represent extensive knowledgebases that provide
a platform for model simulations and integrative analysis of omics data. This study …

Variant interpretation: functional assays to the rescue

LM Starita, N Ahituv, MJ Dunham, JO Kitzman… - The American Journal of …, 2017 - cell.com
Classical genetic approaches for interpreting variants, such as case-control or co-
segregation studies, require finding many individuals with each variant. Because the …

Massively parallel phenoty** of coding variants in cancer with Perturb-seq

O Ursu, JT Neal, E Shea, PI Thakore… - Nature …, 2022 - nature.com
Genome sequencing studies have identified millions of somatic variants in cancer, but it
remains challenging to predict the phenotypic impact of most. Experimental approaches to …

[HTML][HTML] Improved pathogenicity prediction for rare human missense variants

Y Wu, H Liu, R Li, S Sun, J Weile, FP Roth - The American Journal of …, 2021 - cell.com
The success of personalized genomic medicine depends on our ability to assess the
pathogenicity of rare human variants, including the important class of missense variation …

A saturation mutagenesis approach to understanding PTEN lipid phosphatase activity and genotype-phenotype relationships

TL Mighell, S Evans-Dutson, BJ O'Roak - The American Journal of Human …, 2018 - cell.com
Phosphatase and tensin homolog (PTEN) is a tumor suppressor frequently mutated in
diverse cancers. Germline PTEN mutations are also associated with a range of clinical …

Oligogenic inheritance of a human heart disease involving a genetic modifier

CA Gifford, SS Ranade, R Samarakoon, HT Salunga… - Science, 2019 - science.org
Complex genetic mechanisms are thought to underlie many human diseases, yet
experimental proof of this model has been elusive. Here, we show that a human cardiac …

A framework for exhaustively map** functional missense variants

J Weile, S Sun, AG Cote, J Knapp, M Verby… - Molecular systems …, 2017 - embopress.org
Although we now routinely sequence human genomes, we can confidently identify only a
fraction of the sequence variants that have a functional impact. Here, we developed a deep …