Functional genomics of human skeletal development and the patterning of height heritability

D Richard, P Muthuirulan, M Young, L Yengo… - Cell, 2025 - cell.com
Underlying variation in height are regulatory changes to chondrocytes, cartilage cells
comprising long-bone growth plates. Currently, we lack knowledge on epigenetic regulation …

Syndrome-informed phenotyping identifies a polygenic background for achondroplasia-like facial variation in the general population

M Vanneste, H Hoskens, S Goovaerts… - Nature …, 2024 - nature.com
Human craniofacial shape is highly variable yet highly heritable with numerous genetic
variants interacting through multiple layers of development. Here, we hypothesize that …

Pitfalls in performing genome-wide association studies on ratio traits

ZR McCaw, R Dey, H Somineni, D Amar… - Human Genetics and …, 2025 - cell.com
Genome-wide association studies (GWAS) are often performed on ratios composed of a
numerator trait divided by a denominator trait. Examples include body mass index (BMI) and …