Author

Andrew N. Bortvin

Johns Hopkins UniversityORCID 0000-0001-8784-6786Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Research Focus:variant calling· 2 Assay:whole-genome sequencing· 2 Research Focus:differential expression· 1 Assay:DNA methylation· 1 Research Focus:imputation· 1

Frequent Co-Authors

Rajiv C. McCoyiD· 2 shared Alexander A. GimelbrantiD· 1 shared Alexander GuseviD· 1 shared Andreas GnirkeiD· 1 shared Anwesha NagiD· 1 shared Asia MendelevichiD· 1 shared Avery Davis BelliD· 1 shared Clara PereiraiD· 1 shared

Activity by Year

2020-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 24 mutual co-author links

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2 shared papersGenomics

Rajiv C. McCoyORCID

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3 papers

Recent·Most cited

GenomicsbioRxivPreprintFeb 24, 2025

A T2T-CHM13 recombination map and globally diverse haplotype reference panel improves phasing and imputation

Joseph L. Lalli, Andrew N. Bortvin, Rajiv C. McCoy, Donna M. Werling

This study shows that using a T2T-CHM13 recombination map and haplotype panel improves phasing and imputation accuracy compared to GRCh38.

6 citations

humanwhole-genome sequencing

𝕏 PostBluesky

GenomicseLifePeer-reviewedDec 7, 2022

Strict adherence to Mendel's First Law across a large sample of human sperm genomes

Sara A. Carioscia, Kathryn J. Isaac, Andrew N. Bortvin…·Rajiv C. McCoy

The paper analyzes human sperm genomes to test for transmission distortion, finding no evidence of weak TD and introducing a new method for low-coverage data.

11 citations

humanwhole-genome sequencing

𝕏 PostBluesky

GenomicsbioRxivPreprintFeb 20, 2020

DNA methylation is a key mechanism for maintaining monoallelic expression on autosomes

Saumya Gupta, Denis L. J. Lafontaine, Sébastien Vigneau…·Alexander A. Gimelbrant

The paper identifies DNA methylation as a key mechanism for maintaining monoallelic expression on autosomes and reveals its tunable control of allele-specific expression.

9 citations

humanDNA methylation

𝕏 PostBluesky