Author

R Vijhayalakshmi

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Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Research Focus:database / resource· 1 Organism:human· 1 Approach:statistical model· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

N Suriyamoorthy· 1 shared Ratnesh Bhai Mehta· 1 shared S Akila· 1 shared S Srividya· 1 shared Shofia Saghya Infant· 1 shared Tannavee KumariD· 1 shared Vinod ScariaiD· 1 shared

Activity by Year

2023-2023 · peak 1/yr

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7 top collaborators · 21 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

N Suriyamoorthy

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1 paper

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintFeb 21, 2023

A Compendium of manually annotated genetic variants for Alkaptonuria-AKUHub

S Akila, Tannavee Kumar, Shofia Saghya Infant…·Ratnesh Bhai Mehta

The paper compiles and annotates 1686 exonic variants in the HGD gene, creating a comprehensive database (AKUHub) for alkaptonuria with uniform pathogenicity classification.

DOI 10.1101/2023.02.21.23286262

humanwhole-exome sequencing

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