Author

Christoph Klein

insitro, inc. (United States)ORCID 0000-0002-1748-625XUnclaimed ORCID profile · follow to get notified of new preprints

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Christoph Klein1 paper

Biology Disciplines

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Bioinformatics· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Research Focus:benchmarking· 2 Organism:human· 2 Approach:statistical model· 2 Research Focus:GWAS / association mapping· 1 Assay:GWAS summary statistics· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Colm T. O’DushlaineiD· 2 shared Daphne KolleriD· 2 shared Hari SomineniiD· 2 shared Theofanis KaraletsosiD· 2 shared Zachary Ryan McCawiD· 2 shared Anna Merkoulovitch· 1 shared Christopher S. ProbertiD· 1 shared David AmariD· 1 shared

Activity by Year

2023-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 41 mutual co-author links

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2 shared papersBioinformatics

Colm T. O’DushlaineORCID

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2 papers

Recent·Most cited

BioinformaticsBioinformatics AdvancesPeer-reviewedJan 1, 2024

EmbedGEM: A framework to evaluate the utility of embeddings for genetic discovery

Sumit Mukherjee, Zachary Ryan McCaw, Jingwen Pei…·Theofanis Karaletsos

EmbedGEM evaluates embeddings for genetic discovery by assessing heritability and disease relevance using polygenic risk scores and genome-wide association statistics.

5 citations

humanGWAS summary statistics

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GeneticsThe American Journal of Human GeneticsPeer-reviewedJul 25, 2023

An allelic series rare variant association test for candidate gene discovery

Zachary Ryan McCaw, Colm T. O’Dushlaine, Hari Somineni…·Thomas W. Soare

The paper introduces COAST, a rare variant association test for allelic series, which improves power over SKAT-O in detecting gene-trait associations in lipid and cell count traits using UK Biobank data.

26 citationstop 4%

humanwhole-exome sequencing

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