Author

Richa Gupta

DNAnexus (United States)ORCID 0000-0001-7700-5828Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:benchmark study· 1 Research Focus:benchmarking· 1 Assay:DNA methylation· 1 Research Focus:eQTL / molecular QTL mapping· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Aaron M. WengeriD· 1 shared Adrián Muñoz‐BarreraiD· 1 shared Ahmad Al KhleifatiD· 1 shared Aishwarya PisupatiiD· 1 shared Alaina ShumateiD· 1 shared Aleksey ShatunoviD· 1 shared Alexia CardonaiD· 1 shared Alfredo IacoangeliiD· 1 shared

Activity by Year

2021-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 21 mutual co-author links

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1 shared paperGenomics

Aaron M. WengerORCID

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2 papers

Recent·Most cited

GenomicsNature BiotechnologyPeer-reviewedFeb 7, 2022

Towards a Comprehensive Variation Benchmark for Challenging Medically-Relevant Autosomal Genes

Justin Wagner, Nathan D. Olson, Lindsay N. Harris…·Fritz Joachim Sedlazeck

This paper creates a comprehensive benchmark for challenging medically-relevant autosomal genes, improving variant recall from 8% to 100% by addressing reference-specific false duplications.

241 citationstop 1%

humanwhole-genome sequencing

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Genetic & Genomic MedicineNature GeneticsPeer-reviewedSep 1, 2021

Genomic and phenomic insights from an atlas of genetic effects on DNA methylation

Josine L. Min, Gibran Hemani, Eilis J. Hannon…·Marinus H. van IJzendoorn

The paper identifies genetic variants influencing DNA methylation in blood and shows their associations with complex traits and diseases, but finds limited direct causality.

508 citationstop 1%

humanDNA methylation

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