Author

Sanjeev Mariathasan

GenentechORCID 0000-0001-5034-773XUnclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Assay:whole-genome sequencing· 2 Research Focus:GWAS / association mapping· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Christian HammeriD· 2 shared Julie Hunkapiller· 2 shared Matthew L. AlbertiD· 2 shared Antonia KwaniD· 1 shared Deepti R. NagarkariD· 1 shared Diana ChangiD· 1 shared Edward Ernest KadeliD· 1 shared Ellie GuardinoiD· 1 shared

Activity by Year

2020-2020 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 33 mutual co-author links

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2 shared papersBioinformatics

Christian HammerORCID

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2 papers

Recent·Most cited

BioinformaticsBriefings in BioinformaticsPeer-reviewedAug 20, 2020

In silico tools for accurate HLA and KIR inference from clinical sequencing data empower immunogenetics on individual-patient and population scales

Jieming Chen, Shravan Madireddi, Deepti R. Nagarkar…·Christian Hammer

The paper evaluates computational tools for accurately inferring HLA alleles and KIR haplotypes from whole-genome or whole-exome sequencing data, showing high accuracy for both tasks.

31 citations

humanwhole-genome sequencing

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GeneticsProceedings of the National Academy of SciencesPeer-reviewedMay 19, 2020

Polygenic Risk for Skin Autoimmunity Impacts Immune Checkpoint Blockade in Bladder Cancer

Zia Khan, Flavia Di Nucci, Antonia Kwan…·Matthew L. Albert

The paper shows that polygenic risk scores for skin autoimmunity affect the response to immune checkpoint blockade in bladder cancer, with higher vitiligo and psoriasis scores linked to better outcomes.

91 citationstop 3%

humanwhole-genome sequencing

𝕏 PostBluesky