Author

James Knight

Yale UniversityORCID 0000-0003-1166-0437Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Bioinformatics· 1 Genetic & Genomic Medicine· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Approach:statistical model· 3 Assay:whole-genome sequencing· 3 Organism:human· 2 Research Focus:variant calling· 2 Approach:experimental assay· 1 Research Focus:genome assembly· 1 Research Focus:software / tool· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Adrienn TóthpáliD· 1 shared Alexander J. NederbragtiD· 1 shared Ave Tooming‐KlunderudiD· 1 shared Bastiaan StariD· 1 shared Brian P. WalenziD· 1 shared Carol J. Nelson-WilliamsiD· 1 shared Catherine SatzkeiD· 1 shared Christopher CastaldiiD· 1 shared

Activity by Year

2017-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 13 mutual co-author links

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1 shared paperBioinformatics

Adrienn TóthpálORCID

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3 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintApr 28, 2025

Mutations in 329 probands with suspected renal electrolyte disorders

Renan E. Aparicio, Sheng Chih Jin, Weilai Dong…·Richard P. Lifton

The paper identifies genetic mutations in 329 patients with suspected renal electrolyte disorders, finding known/likely disease-causing variants in 295 probands and highlighting non-coding variants and novel mitochondrial mutations.

DOI 10.1101/2025.04.28.25326317

humanwhole-exome sequencing

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BioinformaticsMicrobial GenomicsPeer-reviewedDec 23, 2020

Determining the serotype composition of mixed samples of pneumococcus using whole genome sequencing

James Knight, Eileen Margaret Dunne, Kim Mulholland…·Daniel M. Weinberger

This paper introduces SeroCall, a software tool for accurately quantifying pneumococcal serotypes in mixed samples using whole-genome sequencing.

27 citations

whole-genome sequencingstatistical model

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GenomicsBMC GenomicsPeer-reviewedJan 17, 2017

An improved genome assembly uncovers prolific tandem repeats in Atlantic cod

Ole K. Tørresen, Bastiaan Star, Sissel Jentoft…·Alexander J. Nederbragt

The paper improves the Atlantic cod genome assembly using long-read sequencing and multiple assembly programs, revealing a high density of tandem repeats and heterozygous variation.

155 citationstop 1%

humanwhole-genome sequencing

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