Author

Chiao‐Feng Lin

Brigham and Women's HospitalORCID 0000-0002-6177-8807Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Approach:statistical model· 2 Assay:whole-exome sequencing· 2 Organism:human· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Akash Kamandula· 1 shared Alexandra MartinsiD· 1 shared Amanda M. WilliamsiD· 1 shared Andrew G. L. DouglasiD· 1 shared Brynja MatthíasardóttiriD· 1 shared Carolina Jaramillo OquendoiD· 1 shared Claude HoudayeriD· 1 shared Constantina BakolitsaiD· 1 shared

Activity by Year

2019-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperBioinformatics

Akash Kamandula

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2 papers

Recent·Most cited

BioinformaticsHuman GeneticsPeer-reviewedJan 3, 2024

Predicting the impact of rare variants on RNA splicing in CAGI6

Jenny Lord, Carolina Jaramillo Oquendo, Htoo A. Wai…·Diana Baralle

The paper evaluates splicing prediction methods on 56 clinically validated variants, finding some methods match or exceed SpliceAI's performance but highlighting ongoing challenges in accuracy.

11 citations

humanwhole-exome sequencing

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GeneticsJournal of Molecular DiagnosticsPeer-reviewedJan 2, 2019

A Rigorous Interlaboratory Examination of the Need to Confirm NGS-Detected Variants by an Orthogonal Method in Clinical Genetic Testing

Stephen E. Lincoln, Rebecca Truty, Chiao‐Feng Lin…·Matthew S. Lebo

The paper examines the need for orthogonal confirmation of NGS-detected variants in clinical testing and develops criteria to identify false positives with high accuracy.

71 citationstop 4%

whole-exome sequencingstatistical model

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