STIGMA: Single-cell tissue-specific gene prioritization using machine learning

Author:

Balachandran SaranyaORCID,Prada-Medina Cesar A.,Mensah Martin A.,Glaser Juliane,Kakar Naseebullah,Nagel Inga,Pozojevic Jelena,Audain Enrique,Hitz Marc-Phillip,Kircher Martin,Sreenivasan Varun K.A.,Spielmann Malte

Funder

Deutsches Zentrum für Luft- und Raumfahrt

Else Kröner-Fresenius-Stiftung

Universität zu Lübeck

Max-Planck-Gesellschaft

Deutsche Forschungsgemeinschaft

Publisher

Elsevier BV

Reference82 articles.

1. The Human Phenotype Ontology in 2021;Köhler;Nucleic Acids Res.,2020

2. OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders;Amberger;Nucleic Acids Res.,2015

3. Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland;Wright;N. Engl. J. Med.,2023

4. A genome-wide mutational constraint map quantified from variation in 76,156 human genomes;Chen;bioRxiv,2022

5. DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources;Firth;Am. J. Hum. Genet.,2009

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