This study identifies 43 genomic loci associated with reproductive success in 785,604 individuals, showing ongoing natural selection at the FADS locus.

Nature Human Behaviour · Mar 2, 2023Peer-reviewedGenetics

Genetic analyses of the QT interval and its components in over 250K individuals identifies new loci and pathways affecting ventricular depolarization and repolarization

William John Young, Najim Lahrouchi, Aaron J. Isaacs, ThuyVy Duong, Luisa Foco, Farah Ahmed, Jennifer A. Brody, Reem Salman, Raymond Noordam, Jan Walter Benjamins, Jeffrey Haessler, Leo‐Pekka Lyytikäinen, L. Repetto, Maria Pina Concas, Marten E. van den Berg, , Antônio Luiz Pinho Ribeiro

Nature Communications · Sep 1, 2022Peer-reviewedGenetic & Genomic Medicine

A Saturated Map of Common Genetic Variants Associated with Human Height from 5.4 Million Individuals of Diverse Ancestries

Loïc Yengo, Sailaja Vedantam, Eirini Marouli, Julia Sidorenko, Eric Bartell, Saori Sakaue, Marielisa Graff, Anders Ulrik Eliasen, Yunxuan Jiang, Sridharan Raghavan, Jenkai Miao, Joshua D. Arias, Ronen E. Mukamel, Cassandra Nichole Spracklen, Xianyong Yin, , Thomas Folkmann Hansen

This study identifies 12,111 SNPs associated with height from 5.4 million individuals, explaining most common SNP-based heritability and showing ancestry-specific prediction accuracy.

bioRxiv · Jan 7, 2022 · PreprintGenetics

Poking COVID-19: insights on genomic constraints among immune-related genes between Qatari and Italian populations

Hamdi Mbarek, Massimiliano Cocca, Yasser A. Al-Sarraj, Chadi Saad, Massimo Mezzavilla, Wadha Al‐Muftah, Dario Cocciadiferro, Antonio Novelli, Isabella Quinti, Azza Al-Tawashi, Salvino A. Salvaggio, Asma Al-Thani, Giuseppe Novelli, Said I. Ismail

This study compares genomic variations in immune-related genes between Qatari and Italian populations to identify differences in selective pressures.

Genes · Nov 22, 2021Peer-reviewedGenetic & Genomic Medicine

Low-frequency variation in TP53 has large effects on head circumference and intracranial volume

Simon J. Haworth, Chin Yang Shapland, Caroline Hayward, Bram Peter Prins, Janine F. Felix, Carolina Medina‐Gómez, Fernando Rivadeneira, Carol A. Wang, Tarunveer S. Ahluwalia, Martine Vrijheid, Mònica Guxens, Jordi Sunyer, Ioanna Tachmazidou, Klaudia Walter, Valentina Iotchkova, , David K. Jackson

The paper identifies 9 novel genetic loci, including low-frequency variants in TP53, associated with head circumference and intracranial volume in up to 46,000 individuals.

Nature Communications · Jan 21, 2019Peer-reviewedGenetics

Narrow-sense heritability estimation of complex traits using identity-by-descent information.

Luke M. Evans, Rasool Tahmasbi, Matthew Jones, Scott I. Vrieze, Gonçalo R. Abecasis, Sayantan Das, Douglas W. Bjelland, Teresa R de Candia, David Altshuler, Carl A. Anderson, Andrea Angius, Jeffrey C. Barrett, Sonja I. Berndt, Michael Boehnke, Dorrett Boomsma, , George Davey Smith

This paper estimates narrow-sense heritability using identity-by-descent information in unrelated individuals and finds that IBD-based methods can capture rare variant contributions but are affected by stratification.

Heredity · Mar 28, 2018Peer-reviewedGenetics

Novel blood pressure locus and gene discovery using GWAS and expression datasets from blood and the kidney

Louise V. Wain, Ahmad Vaez, Rick Jansen, Roby Joehanes, Peter J. van der Most, Abdullah Mesut Erzurumluoglu, Paul F. O’Reilly, Claudia P. Cabrera, Helen R. Warren, Lynda M. Rose, Germaine C. Verwoert, Jouke‐Jan Hottenga, Rona J. Strawbridge, Tõnu Esko, Dan E. Arking, , Tamara B. Harris

This study identifies 6 new blood pressure loci and 48 genes involved in BP regulation using GWAS and gene expression data from blood and kidney tissues.

Hypertension · Jul 24, 2017Peer-reviewedGenomics

Purging of deleterious variants due to drift and founder effect in Italian populations with extended autozygosity

Massimiliano Cocca, Marc Pybus, Pier Francesco Palamara, Erik Garrison, Michela Traglia, Cinzia F Sala, Sheila Uiivi, Yasin Memari, Anja Kolb-Kokocinski, Shane McCarthy, Richard Durbin, Paolo Gasparini, Daniela Toniolo, Nicole Soranzo, Vincenza Colonna

The paper analyzes whole-genome sequencing data from Italian founder populations to determine the cause of purging of deleterious variants, concluding that genetic drift and founder effect, not consanguinity, are responsible.

bioRxiv · Oct 12, 2015 · PreprintEvolutionary Biology