Author

Liying Zhang

Memorial Sloan Kettering Cancer CenterORCID 0000-0003-4517-0751Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Research Focus:benchmarking· 2 Research Focus:database / resource· 2 Research Focus:variant effect prediction· 2 Assay:whole-exome sequencing· 2 Research Focus:software / tool· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Amanda B. SpurdleiD· 2 shared Kristy LeeiD· 2 shared Sharon E. PloniD· 2 shared Tina F. PesaraniD· 2 shared Ann Katherine M. ForemaniD· 1 shared Arjen R. MensenkampiD· 1 shared Bing FengiD· 1 shared Brian H. ShirtsiD· 1 shared

Activity by Year

2019-2021 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 36 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Amanda B. SpurdleORCID

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3 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintNov 1, 2021

ClinGen CDH1 specifications for the ACMG/AMP guidelines: improvement of germline variant clinical assertions and updated curation guidelines

Xi Luo, Jamie L. Maciaszek, Bryony A. Thompson…·Rachid Karam

The paper updates CDH1 variant curation guidelines to resolve conflicting interpretations and reduce variants of uncertain significance for clinical use.

DOI 10.1101/2021.11.01.21265332

humanstatistical model

𝕏 PostBluesky

Genetic & Genomic MedicineHuman MutationPeer-reviewedDec 10, 2020

Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants

Cristina Fortuño, Kristy Lee, Magali Olivier…·the ClinGen TP53 Variant Curation Expert Panel

The paper specifies TP53-specific ACMG/AMP variant classification guidelines, reducing variants of uncertain significance from 28% to 12%.

170 citationstop 1%

humanwhole-exome sequencing

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GeneticsGenetics in MedicinePeer-reviewedFeb 20, 2019

Towards automation of germline variant curation in clinical cancer genetics

Vignesh Ravichandran, Zarina Shameer, Yelena M. Kemel…·Joseph Vijai

PathoMAN automates germline variant curation using ACMG guidelines, achieving high concordance with expert curation and proposing refinements for better ClinVar reporting.

48 citations

humanwhole-exome sequencing

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