Author

Salvatore Loguercio

Scripps Research InstituteORCID 0000-0002-7544-2992Unclaimed ORCID profile · follow to get notified of new preprints

Additional preprints under this name without ORCID

Salvatore Loguercio1 paper

Biology Disciplines

Click to filter author papers

Bioinformatics· 1 Genetic & Genomic Medicine· 1 Molecular Biology· 1

Signature Assays, Organisms & Methods

Click to filter · or open tag

Organism:human· 2 Research Focus:imputation· 2 Approach:statistical model· 2 Assay:whole-genome sequencing· 2 Approach:experimental assay· 1 Research Focus:variant calling· 1 Approach:variational autoencoder· 1

Frequent Co-Authors

Ali TorkamaniiD· 2 shared Abdallah Amr MahmoudiD· 1 shared Adriano De MarinoiD· 1 shared Anagh RayiD· 1 shared Andrew TerpolovskyiD· 1 shared Biljana NovkovićiD· 1 shared Charlie Manson· 1 shared Chia-Yu Chang· 1 shared

Activity by Year

2022-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 19 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

2 shared papersGenetic & Genomic Medicine

Ali TorkamaniORCID

Mutual co-authors in cluster

Author profile →

3 papers

Recent·Most cited

Microhomology-mediated end joining acts directly on replication forks to repair single-ended double strand breaks

Shibo Li, Yuqin Zhao, Youhang Li, Sameer Bikram Shah, Yanmeng Shi, Tran Nguyen, Zi Wang, Chia-Yu Chang, Anagh Ray, Te-Hsuan Bu, Salvatore Loguercio, Takayo Sasaki, Jonathan Sussman, Hao Wang, David M. Gilbert, , Xiaohua Wu

This study shows that microhomology-mediated end joining (MMEJ) repairs single-ended DSBs at replication forks, working with BIR and being regulated by ATR and Pol{theta}.

Molecular Cell · Mar 16, 2026Peer-reviewedMolecular Biology

Selphi: Empowering GWAS Discovery through Enhanced Genotype Imputation

Adriano De Marino, Abdallah Amr Mahmoud, Sandra Bohn, Jon Lerga-Jaso, Biljana Novković, Charlie Manson, Salvatore Loguercio, Andrew Terpolovsky, Mykyta Matushyn, Ali Torkamani, Puya G. Yazdi

Selphi improves genotype imputation accuracy, especially for rare variants, enhancing GWAS discovery and polygenic risk scores.

medRxiv · Dec 18, 2023 · PreprintGenetic & Genomic Medicine

Rapid, Reference-Free Human Genotype Imputation with Denoising Autoencoders

Raquel Dias, Doug Evans, Shang‐Fu Chen, Kaiyu Chen, Salvatore Loguercio, Leslie Chan, Ali Torkamani

This paper introduces a denoising autoencoder for rapid, reference-free human genotype imputation, achieving higher accuracy and faster runtime than standard methods.

eLife · Sep 23, 2022Peer-reviewedBioinformatics