Publications by authors named "Christopher Cassa"

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Extracting and calibrating evidence of variant pathogenicity from population biobank data.
Vineel Bhat, Tian Yu, Lara Brown, Vikas Pejaver, Matthew Lebo, Christopher A Cassa

Am J Hum Genet· August 2025

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Extracting and calibrating evidence of variant pathogenicity from population biobank data.
Vineel Bhat, Tian Yu, Lara Brown, Vikas Pejaver, Matthew Lebo, Christopher A Cassa

medRxiv· May 2025

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From Text to Translation: Using Language Models to Prioritize Variants for Clinical Review.
Weijiang Li, Xiaomin Li, Ethan Lavallee, Alice Saparov, Marinka Zitnik, Christopher Cassa

medRxiv· April 2025

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FUSE: Improving the estimation and imputation of variant impacts in functional screening.
Tian Yu, James D Fife, Vineel Bhat, Ivan Adzhubey, Richard Sherwood, Christopher A Cassa

Cell Genom· October 2024

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Joint genotypic and phenotypic outcome modeling improves base editing variant effect quantification.
Jayoung Ryu, Sam Barkal, Tian Yu, Martin Jankowiak, Yunzhuo Zhou, Christopher A Cassa

Nat Genet· May 2024

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Joint genotypic and phenotypic outcome modeling improves base editing variant effect quantification.
Jayoung Ryu, Sam Barkal, Tian Yu, Martin Jankowiak, Yunzhuo Zhou, Christopher A Cassa

medRxiv· September 2023

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Estimating clinical risk in gene regions from population sequencing cohort data.
James D Fife, Christopher A Cassa

Am J Hum Genet· June 2023

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Systematic elucidation of genetic mechanisms underlying cholesterol uptake.
Marisa C Hamilton, James D Fife, Ersin Akinci, Tian Yu, Benyapa Khowpinitchai, Christopher A Cassa

Cell Genom· May 2023

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DeMAG predicts the effects of variants in clinically actionable genes by integrating structural and evolutionary epistatic features.
Federica Luppino, Ivan A Adzhubei, Christopher A Cassa, Agnes Toth-Petroczy

Nat Commun· April 2023

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Informing variant assessment using structured evidence from prior classifications (PS1, PM5, and PVS1 sequence variant interpretation criteria).
Vineel Bhat, Ivan A Adzhubei, James D Fife, Matthew Lebo, Christopher A Cassa

Genet Med· January 2023

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Estimating clinical risk in gene regions from population sequencing cohort data.
James D Fife, Christopher A Cassa

medRxiv· January 2023

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Joint estimation and imputation of variant functional effects using high throughput assay data.
Tian Yu, James D Fife, Ivan Adzhubey, Richard Sherwood, Christopher A Cassa

medRxiv· January 2023

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Systematic elucidation of genetic mechanisms underlying cholesterol uptake.
Marisa C Hamilton, James D Fife, Ersin Akinci, Tian Yu, Benyapa Khowpinitchai, Christopher A Cassa

bioRxiv· January 2023

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Variants in STXBP3 are Associated with Very Early Onset Inflammatory Bowel Disease, Bilateral Sensorineural Hearing Loss and Immune Dysregulation.
Jodie Ouahed, Judith R Kelsen, Waldo A Spessott, Kameron Kooshesh, Maria L Sanmillan, Christopher A Cassa

J Crohns Colitis· November 2021

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Machine learning based CRISPR gRNA design for therapeutic exon skipping.
Wilson Louie, Max W Shen, Zakir Tahiry, Sophia Zhang, Daniel Worstell, Christopher A Cassa

PLoS Comput Biol· January 2021

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Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathy.
Maria Kousi, Onuralp Söylemez, Aysegül Ozanturk, Niki Mourtzi, Sebastian Akle, Christopher A Cassa

Nat Genet· November 2020

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Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions.
Akl C Fahed, Minxian Wang, Julian R Homburger, Aniruddh P Patel, Alexander G Bick, Christopher A Cassa

Nat Commun· August 2020

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Elucidation of remdesivir cytotoxicity pathways through genome-wide CRISPR-Cas9 screening and transcriptomics.
Ersin Akinci, Minsun Cha, Lin Lin, Grace Yeo, Marisa C Hamilton, Christopher A Cassa

bioRxiv· August 2020

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Determinants of Base Editing Outcomes from Target Library Analysis and Machine Learning.
Mandana Arbab, Max W Shen, Beverly Mok, Christopher Wilson, Żaneta Matuszek, Christopher A Cassa

Cell· July 2020

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Association of Rare Pathogenic DNA Variants for Familial Hypercholesterolemia, Hereditary Breast and Ovarian Cancer Syndrome, and Lynch Syndrome With Disease Risk in Adults According to Family History.
Aniruddh P Patel, Minxian Wang, Akl C Fahed, Heather Mason-Suares, Deanna Brockman, Christopher A Cassa

JAMA Netw Open· April 2020

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Mutations in RABL3 alter KRAS prenylation and are associated with hereditary pancreatic cancer.
Sahar Nissim, Ignaty Leshchiner, Joseph D Mancias, Matthew B Greenblatt, Ophélia Maertens, Christopher A Cassa

Nat Genet· September 2019

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Applicability of the Mutation-Selection Balance Model to Population Genetics of Heterozygous Protein-Truncating Variants in Humans.
Donate Weghorn, Daniel J Balick, Christopher Cassa, Jack A Kosmicki, Mark J Daly

Mol Biol Evol· August 2019

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Author Correction: Predictable and precise template-free CRISPR editing of pathogenic variants.
Max W Shen, Mandana Arbab, Jonathan Y Hsu, Daniel Worstell, Sannie J Culbertson, Christopher A Cassa

Nature· March 2019

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Reply to 'Selective effects of heterozygous protein-truncating variants'.
Christopher A Cassa, Donate Weghorn, Daniel J Balick, Daniel M Jordan, David Nusinow

Nat Genet· January 2019

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