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 …
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 …
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 …
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
Genome-scale metabolic models (GEMs) represent extensive knowledgebases that provide
a platform for model simulations and integrative analysis of omics data. This study …
a platform for model simulations and integrative analysis of omics data. This study …
Variant interpretation: functional assays to the rescue
Classical genetic approaches for interpreting variants, such as case-control or co-
segregation studies, require finding many individuals with each variant. Because the …
segregation studies, require finding many individuals with each variant. Because the …
Massively parallel phenoty** of coding variants in cancer with Perturb-seq
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 …
remains challenging to predict the phenotypic impact of most. Experimental approaches to …
[HTML][HTML] Improved pathogenicity prediction for rare human missense variants
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 …
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
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 …
diverse cancers. Germline PTEN mutations are also associated with a range of clinical …
Oligogenic inheritance of a human heart disease involving a genetic modifier
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 …
experimental proof of this model has been elusive. Here, we show that a human cardiac …
A framework for exhaustively map** functional missense variants
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 …
fraction of the sequence variants that have a functional impact. Here, we developed a deep …