Author

Christopher Haiman

Lund University

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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Genetic & Genomic Medicine· 1 Genetics· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Research Focus:variant effect prediction· 2 Assay:whole-exome sequencing· 2 Research Focus:differential expression· 1 Research Focus:drug response / drug discovery· 1 Research Focus:fine-mapping· 1 Research Focus:gene regulatory network inference· 1

Frequent Co-Authors

Adolfo CorreaiD· 2 shared Ben WeisburdiD· 2 shared Benjamin GläseriD· 2 shared Donald W. BowdeniD· 2 shared Gil AtzmoniD· 2 shared John Campbell ChambersiD· 2 shared Josée DupuisiD· 2 shared Leif GroopiD· 2 shared

Activity by Year

2015-2021 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Adolfo CorreaORCID

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3 papers

Recent·Most cited

Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes

Julia K. Goodrich, Moriel Singer‐Berk, Rachel Son, Abigail Sveden, Jordan C. Wood, Eleina M. England, Joanne B. Cole, Ben Weisburd, Nick Watts, Lizz Caulkins, Peter Dornbos, Ryan Koesterer, Zachary Zappala, Haichen Zhang, Kristin A. Maloney, , Kerrin S. Small

The paper evaluates penetrance and variable expressivity of monogenic metabolic conditions using exome data from 77,184 individuals, finding that monogenic variants have larger effect sizes than polygenic scores but low penetrance.

Nature Communications · Jun 9, 2021Peer-reviewedGenetic & Genomic Medicine

Evaluating potential drug targets through human loss-of-function genetic variation

Eric Vallabh Minikel, Konrad J. Karczewski, Hilary C. Martin, Beryl B. Cummings, Nicola Whiffin, Daniel Rhodes, Jessica Alföldi, Richard C. Trembath, David A. van Heel, Mark J. Daly, Genome Aggregation Database Production Team, Irina M. Armean, Eric Banks, Louis Bergelson, Kristian Cibulskis, , Craig Hanis

The paper evaluates potential drug targets using loss-of-function genetic variants from gnomAD, highlighting the importance of deep curation and targeted recall studies for drug discovery.

Nature · May 27, 2020Peer-reviewedGenomics

The contribution of rare variation to prostate cancer heritability

Nicholas Mancuso, Nadin Rohland, Kristin Rand, Arti Tandon, Alexander Allen, Dominique Quinque, Swapan Mallick, Heng Li, Alex Stram, Xin Sheng, Zsofia Kote-Jarai, Douglas F Easton, Rosalind A Eeles, the PRACTICAL consortium, Loic Le Marchand, , David Reich

This study investigates the role of rare genetic variation in prostate cancer heritability using targeted sequencing of GWAS risk regions across multiple ancestries.

bioRxiv · Jul 31, 2015Genetics