Author

Emily Liau

Broad Institute

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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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:variant calling· 2 Assay:whole-genome sequencing· 2 Research Focus:differential expression· 1 Approach:experimental assay· 1 Research Focus:imputation· 1 Assay:long-read sequencing· 1

Frequent Co-Authors

Alba Sanchis‐JuaniD· 2 shared Harrison BrandiD· 2 shared Akanksha KhorgadeiD· 1 shared Alan H. BeggsiD· 1 shared Alex Yenkin· 1 shared Alicia Pham· 1 shared Ana TöpfiD· 1 shared Andrew N. Silva· 1 shared

Activity by Year

2026-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 38 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Alba Sanchis‐JuanORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintJul 10, 2026

Structural Variant Imputation in Samoans Using a Population-Specific Reference Panel

Lauren M. Spor, Emily Liau, Alba Sanchis‐Juan…·Ryan L. Minster

The paper imputes structural variants and SNVs in Samoans using a population-specific reference panel, showing improved imputation performance compared to multi-ancestry panels.

DOI 10.64898/2026.07.07.26357461

humanwhole-genome sequencing

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Genetic & Genomic MedicinemedRxivPreprintJun 24, 2026

Structural variant discovery and diagnostic impact in rare diseases from short-read and long-read sequencing

Alba Sanchis‐Juan, Yulia Mostovoy, Sarah L. Stenton…·Michael E. Talkowski

This study evaluates the diagnostic yield of short-read and long-read sequencing in rare diseases, finding limited added value from long-read sequencing despite increased variant discovery.

1 citation

humanwhole-exome sequencing

𝕏 PostBluesky