Laurent C. Francioli

A structural variation reference for medical and population genetics

Tariq Ahmad, Patrick F. Sullivan, Mark I. McCarthy, 2020, Nature.

Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals

Tariq Ahmad, Patrick F. Sullivan, Andres Metspalu, 2020, Nature Communications.

Genome-wide patterns and properties of de novo mutations in humans

Morris Swertz, Victor Guryev, Dorret I. Boomsma, 2015, Nature Genetics.

An open resource of structural variation for medical and population genetics

Grace Tiao, Daniel G. MacArthur, Ryan L. Collins, 2019 .

Deleterious Alleles in the Human Genome Are on Average Younger Than Neutral Alleles of the Same Frequency

Adam Kiezun, Morris Swertz, Dorret I. Boomsma, 2013, PLoS genetics.

A high-quality reference panel reveals the complexity and distribution of structural genome changes in a human population

Morris A. Swertz, Jasmijn A. Baaijens, Victor Guryev, 2016, bioRxiv.