Author

Leonardo Arbiza

Twist Bioscience (United States)

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Evolutionary Biology· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Assay:whole-genome sequencing· 2 Research Focus:chromatin & epigenetic regulation· 1 Assay:DNA methylation· 1 Approach:experimental assay· 1 Research Focus:phylogenetics / evolution· 1 Approach:statistical model· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Adam Siepel· 1 shared Ibrahim NumanagićiD· 1 shared Jesse Joachim SweniD· 1 shared Loes Busscher· 1 shared Maaike van der LeeiD· 1 shared Nina GonzaludoiD· 1 shared Qinglian Zhai· 1 shared Redmar R. van den BergiD· 1 shared

Activity by Year

2014-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 36 mutual co-author links

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1 shared paperEvolutionary Biology

Adam Siepel

Author profile →

2 papers

Recent·Most cited

Design and performance of a long-read sequencing panel for pharmacogenomics

Maaike van der Lee, Loes Busscher, Roberta Menafra, Qinglian Zhai, Redmar R. van den Berg, Sarah B. Kingan, Nina Gonzaludo, Ting Hon, Ting Han, Leonardo Arbiza, Ibrahim Numanagić, Susan L. Kloet, Jesse Joachim Swen

The paper presents a long-read sequencing panel for pharmacogenomics, achieving high accuracy and phasing for SNVs and clinical star(*)-alleles.

bioRxiv · Oct 25, 2022 · PreprintGenetics

Cis-regulatory elements and human evolution

Adam Siepel, Leonardo Arbiza

This paper reviews recent research on the evolution of cis-regulatory elements in humans using large-scale genomic data, focusing on primate divergence, human polymorphism, and new frontiers in transcriptional regulation.

Current Opinion in Genetics & Development · Dec 1, 2014Peer-reviewedEvolutionary Biology