Rare loss-of-function variants in POLD1, PMS1 and FAN1 modify age at onset of motor symptoms in Huntington's disease
Sahar Gelfman, Rujin Wang, Adrián I. Campos…·Giovanni Coppola
Author
Icahn School of Medicine at Mount SinaiORCID 0000-0002-1982-7652Unclaimed ORCID profile · follow to get notified of new preprints
10 papers
Recent·Most cited
Sahar Gelfman, Rujin Wang, Adrián I. Campos…·Giovanni Coppola
John Erol Evangelista, Daniel J.B. Clarke, Zhuorui Xie…·Avi Ma’ayan
The CFDE Workbench integrates metadata and processed data from Common Fund programs to enable FAIR and AI-ready cross-program knowledge discovery.
Anna I. Byrd, John Erol Evangelista, Alexander Lachmann…·Avi Ma’ayan
ChEA-KG constructs a human transcription factor regulatory network using gene set enrichment analysis and provides an interactive web interface for network exploration and analysis.
Giacomo B. Marino, Daniel J. B. Clarke, Alexander Lachmann…·Avi Ma’ayan
RummaGEO automatically mines gene sets from GEO RNA-seq studies for human and mouse, enabling signature search and metadata analysis.
Daniel J. B. Clarke, John Erol Evangelista, Zhuorui Xie…·Avi Ma’ayan
The paper introduces a web-based platform for building bioinformatics workflows using APIs, enabling hypothesis generation across multiple data sources.
Alexander Lachmann, Kaeli Rizzo, Alon Bartal…·Avi Ma’ayan
PrismExp improves gene function prediction by partitioning RNA-seq co-expression data into tissue-specific segments, outperforming cross-tissue approaches across multiple domains.
Joshua Broyde, David R. Simpson, Diana Murray…·Andrea Califano
The paper introduces an algorithm to reconstruct context-specific molecular interaction maps centered on oncoproteins, validating it with KRAS in lung adenocarcinoma and identifying novel synthetic lethal proteins.
Denis Torre, Alexander Lachmann, Avi Ma’ayan
BioJupies automates the creation of interactive Jupyter Notebooks for RNA-seq analysis, enabling users to generate reproducible reports from raw data to visualizations and differential expression analyses.
Alexander Lachmann, Zhuorui Xie, Avi Ma’ayan
Elysium provides a cloud-based RNA-seq alignment service with a GUI, allowing users to upload FASTQ files and obtain aligned results without needing programming skills or Amazon credentials.
Alexander Lachmann, Denis Torre, Alexandra B. Keenan…·Avi Ma’ayan
The paper develops ARCHS4, a resource that provides uniformly processed RNA-seq data from human and mouse, enabling easier integration and analysis.