Mendelian inheritance revisited: dominance and recessiveness in medical genetics

J Zschocke, PH Byers, AOM Wilkie - Nature Reviews Genetics, 2023 - nature.com
Understanding the consequences of genotype for phenotype (which ranges from molecule-
level effects to whole-organism traits) is at the core of genetic diagnostics in medicine. Many …

Transfer learning enables predictions in network biology

CV Theodoris, L Xiao, A Chopra, MD Chaffin… - Nature, 2023 - nature.com
Mapping gene networks requires large amounts of transcriptomic data to learn the
connections between genes, which impedes discoveries in settings with limited data …

Haploinsufficient Transcription Factors in Myeloid Neoplasms

TC Martinez, ME McNerney - Annual Review of Pathology …, 2024 - annualreviews.org
Many transcription factors (TFs) function as tumor suppressor genes with heterozygous
phenotypes, yet haploinsufficiency generally has an underappreciated role in neoplasia …

Krüppel-like factor 6–mediated loss of BCAA catabolism contributes to kidney injury in mice and humans

SE Piret, Y Guo, AA Attallah, SJ Horne… - Proceedings of the …, 2021 - National Acad Sciences
Altered cellular metabolism in kidney proximal tubule (PT) cells plays a critical role in acute
kidney injury (AKI). The transcription factor Krüppel-like factor 6 (KLF6) is rapidly and …

How do large language models understand genes and cells

C Fang, Y Wang, Y Song, Q Long, W Lu… - ACM Transactions on …, 2024 - dl.acm.org
Researching genes and their interactions is crucial for deciphering the fundamental laws of
cellular activity, advancing disease treatment, drug discovery, and more. Large language …

Integration of data from liquid–liquid phase separation databases highlights concentration and dosage sensitivity of LLPS drivers

N Farahi, T Lazar, SJ Wodak, P Tompa… - International Journal of …, 2021 - mdpi.com
Liquid–liquid phase separation (LLPS) is a molecular process that leads to the formation of
membraneless organelles, representing functionally specialized liquid-like cellular …

Of numbers and movement–understanding transcription factor pathogenesis by advanced microscopy

JMT Auer, JJ Stoddart, I Christodoulou… - Disease models & …, 2020 - journals.biologists.com
Transcription factors (TFs) are life-sustaining and, therefore, the subject of intensive
research. By regulating gene expression, TFs control a plethora of developmental and …

The selfish environment meets the selfish gene: Coevolution and inheritance of RNA and DNA pools: A model for organismal life incorporating coevolution, horizontal …

AP Monaco - BioEssays, 2022 - Wiley Online Library
Throughout evolution, there has been interaction and exchange between RNA pools in the
environment, and DNA and RNA pools of eukaryotic organisms. Metagenomic and …

Cell-Graph Compass: Modeling Single Cells with Graph Structure Foundation Model

C Fang, Z Hu, S Chang, Q Long, W Cui, W Liu, C Li… - bioRxiv, 2024 - biorxiv.org
Inspired by the advancements in pre-trained Large Language Models, there has been a
surge of studies in the Life Sciences focusing on constructing foundation models with large …

LitGene: a transformer-based model that uses contrastive learning to integrate textual information into gene representations

A Jararweh, O Macaulay, D Arredondo, OM Oyebamiji… - bioRxiv, 2024 - biorxiv.org
Abstract Representation learning approaches leverage sequence, expression, and network
data, but utilize only a fraction of the rich textual knowledge accumulated in the scientific …