Author

Martina I. Lefterova

Personalis (United States)

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Bioinformatics· 1

Signature Assays, Organisms & Methods

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Research Focus:benchmarking· 1 Research Focus:database / resource· 1 Organism:human· 1 Approach:machine learning (classical)· 1 Research Focus:software / tool· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Anna Rychkova· 1 shared Carlos D. BustamanteiD· 1 shared Carlos E. MillaiD· 1 shared Curt ScharfeiD· 1 shared Iris SchrijveriD· 1 shared Justin Iver OdegaardiD· 1 shared MyMy C. BuuiD· 1 shared

Activity by Year

2017-2017 · peak 1/yr

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7 top collaborators · 21 mutual co-author links

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1 shared paperBioinformatics

Anna Rychkova

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1 paper

Recent·Most cited

BioinformaticsbioRxivPreprintMar 10, 2017

DEVELOPING GENE-SPECIFIC META-PREDICTOR OF VARIANT PATHOGENICITY

Anna Rychkova, MyMy C. Buu, Curt Scharfe…·Carlos D. Bustamante

The paper develops a gene-specific meta-predictor for variant pathogenicity using a Random Forest model trained on the CFTR gene and evaluates its performance against existing tools.

2 citations

humanwhole-exome sequencing

𝕏 PostBluesky