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 …
Guidelines for the genetic diagnosis of hereditary recurrent fevers
Y Shinar, L Obici, I Aksentijevich, B Bennetts… - Annals of the …, 2012 - ard.bmj.com
Hereditary recurrent fevers (HRFs) are a group of monogenic autoinflammatory diseases
characterised by recurrent bouts of fever and serosal inflammation that are caused by …
characterised by recurrent bouts of fever and serosal inflammation that are caused by …
Building a knowledge graph to enable precision medicine
Developing personalized diagnostic strategies and targeted treatments requires a deep
understanding of disease biology and the ability to dissect the relationship between …
understanding of disease biology and the ability to dissect the relationship between …
Pharos 2023: an integrated resource for the understudied human proteome
Abstract The Illuminating the Druggable Genome (IDG) project aims to improve our
understanding of understudied proteins and our ability to study them in the context of …
understanding of understudied proteins and our ability to study them in the context of …
Democratizing knowledge representation with BioCypher
Biomedical data are amassed at an ever-increasing rate, and machine learning tools that
use prior knowledge in combination with biomedical big data are gaining much traction 1, 2 …
use prior knowledge in combination with biomedical big data are gaining much traction 1, 2 …
VarAFT: a variant annotation and filtration system for human next generation sequencing data
JP Desvignes, M Bartoli, V Delague… - Nucleic acids …, 2018 - academic.oup.com
With the rapidly developing high-throughput sequencing technologies known as next
generation sequencing or NGS, our approach to gene hunting and diagnosis has drastically …
generation sequencing or NGS, our approach to gene hunting and diagnosis has drastically …
Longitudinal lung function and gas transfer in individuals with idiopathic pulmonary fibrosis: a genome-wide association study
Background Idiopathic pulmonary fibrosis (IPF) is an incurable lung disease characterised
by progressive scarring leading to alveolar stiffness, reduced lung capacity, and impeded …
by progressive scarring leading to alveolar stiffness, reduced lung capacity, and impeded …
[HTML][HTML] A nondegenerate code of deleterious variants in Mendelian loci contributes to complex disease risk
DR Blair, CS Lyttle, JM Mortensen, CF Bearden… - Cell, 2013 - cell.com
Although countless highly penetrant variants have been associated with Mendelian
disorders, the genetic etiologies underlying complex diseases remain largely unresolved. By …
disorders, the genetic etiologies underlying complex diseases remain largely unresolved. By …
genenames. org: the HGNC resources in 2011
RL Seal, SM Gordon, MJ Lush, MW Wright… - Nucleic acids …, 2010 - academic.oup.com
Abstract The HUGO Gene Nomenclature Committee (HGNC) aims to assign a unique gene
symbol and name to every human gene. The HGNC database currently contains almost 30 …
symbol and name to every human gene. The HGNC database currently contains almost 30 …