Author

Kathryn E. Hatchell

Invitae (United States)ORCID 0000-0003-0849-7018Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2 Genetics· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Research Focus:variant calling· 2 Assay:whole-exome sequencing· 2 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Assay:GWAS summary statistics· 1 Research Focus:polygenic risk· 1

Frequent Co-Authors

Alexis C. WoodiD· 2 shared Corinne D. EngelmaniD· 2 shared Erin D. MichosiD· 2 shared Qiongshi LuiD· 2 shared Stephen Francis KingsmoreiD· 2 shared Swaroop AradhyaiD· 2 shared Amanda Thomas‐WilsoniD· 1 shared Ana S.A. CoheniD· 1 shared

Activity by Year

2019-2023 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 18 mutual co-author links

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2 shared papersGenomics

Alexis C. WoodORCID

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Author profile →

4 papers

Recent·Most cited

Genetic & Genomic MedicineGenetics in MedicinePeer-reviewedJul 30, 2023

The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change

Heidi L. Rehm, Joseph T. Alaimo, Swaroop Aradhya…·Stephen Francis Kingsmore

The paper analyzes VUS rates in genetic testing and finds lower rates in exome/genome sequencing compared to multi-gene panels, suggesting improvements in variant reporting practices.

138 citationstop 1%

whole-exome sequencingwhole-genome sequencing

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Genetic & Genomic MedicineGenetics in MedicinePeer-reviewedMay 18, 2021

One in seven pathogenic variants can be challenging to detect by NGS: An analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementation

Stephen E. Lincoln, Tina M. Hambuch, Justin M. Zook…·Robert Luke Nussbaum

The paper evaluates the detection of technically challenging variants in NGS workflows using synthetic specimens and clinical data from 450,000 patients, finding significant variability in detection rates.

91 citationstop 1%

humanwhole-exome sequencing

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GenomicsGenetic EpidemiologyPeer-reviewedDec 12, 2019

Multi-ethnic analysis shows genetic risk and environmental predictors interact to influence 25(OH)D concentration and optimal vitamin D intake

Kathryn E. Hatchell, Qiongshi Lu, Julie A. Mares…·Corinne D. Engelman

This paper investigates gene-environment interactions affecting vitamin D levels and optimal intake across different ethnic groups.

6 citations

humanstatistical model

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GeneticsHuman GeneticsPeer-reviewedJul 24, 2019

Ancestry-specific polygenic scores and SNP heritability of 25(OH)D in African- and European-ancestry populations

Kathryn E. Hatchell, Qiongshi Lu, Scott Joseph Hebbring…·Corinne D. Engelman

The paper develops ancestry-specific polygenic scores for 25(OH)D levels, showing they predict blood concentrations and inform vitamin D supplementation needs.

10 citations

humanGWAS summary statistics

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