Polygenic enrichment distinguishes disease associations of individual cells in single-cell RNA-seq data

MJ Zhang, K Hou, KK Dey, S Sakaue, KA Jagadeesh… - Nature …, 2022 - nature.com
Single-cell RNA sequencing (scRNA-seq) provides unique insights into the pathology and
cellular origin of disease. We introduce single-cell disease relevance score (scDRS), an …

[HTML][HTML] Missing heritability in Parkinson's disease: the emerging role of non-coding genetic variation

J Ohnmacht, P May, L Sinkkonen, R Krüger - Journal of Neural …, 2020 - Springer
Parkinson's disease (PD) is a neurodegenerative disorder caused by a complex interplay of
genetic and environmental factors. For the stratification of PD patients and the development …

Insights and implications of genome-wide association studies of height

MH Guo, JN Hirschhorn, A Dauber - The Journal of Clinical …, 2018 - academic.oup.com
Context In the last decade, genome-wide association studies (GWASs) have catalyzed our
understanding of the genetics of height and have identified hundreds of regions of the …

[HTML][HTML] Evolutionary selection and constraint on human knee chondrocyte regulation impacts osteoarthritis risk

D Richard, Z Liu, J Cao, AM Kiapour, J Willen… - Cell, 2020 - cell.com
During human evolution, the knee adapted to the biomechanical demands of bipedalism by
altering chondrocyte developmental programs. This adaptive process was likely not without …

The developmental impacts of natural selection on human pelvic morphology

M Young, D Richard, M Grabowski, BM Auerbach… - Science …, 2022 - science.org
Evolutionary responses to selection for bipedalism and childbirth have shaped the human
pelvis, a structure that differs substantially from that in apes. Morphology related to these …

Estimating heritability and its enrichment in tissue-specific gene sets in admixed populations

Y Luo, X Li, X Wang, S Gazal… - Human molecular …, 2021 - academic.oup.com
It is important to study the genetics of complex traits in diverse populations. Here, we
introduce covariate-adjusted linkage disequilibrium (LD) score regression (cov-LDSC), a …

[HTML][HTML] Joint disease-specificity at the regulatory base-pair level

P Muthuirulan, D Zhao, M Young, D Richard… - Nature …, 2021 - nature.com
Given the pleiotropic nature of coding sequences and that many loci exhibit multiple disease
associations, it is within non-coding sequence that disease-specificity likely exists. Here, we …

[HTML][HTML] Bi-fated tendon-to-bone attachment cells are regulated by shared enhancers and KLF transcription factors

S Kult, T Olender, M Osterwalder, S Markman… - Elife, 2021 - elifesciences.org
The mechanical challenge of attaching elastic tendons to stiff bones is solved by the
formation of a unique transitional tissue. Here, we show that murine tendon-to-bone …

Lineage-specific differences and regulatory networks governing human chondrocyte development

D Richard, S Pregizer, D Venkatasubramanian… - Elife, 2023 - elifesciences.org
To address large gaps in our understanding of the molecular regulation of articular and
growth plate cartilage development in humans, we used our directed differentiation …

[HTML][HTML] Interspecies transcriptomics identify genes that underlie disproportionate foot growth in jerboas

A Saxena, V Sharma, P Muthuirulan, SJ Neufeld… - Current Biology, 2022 - cell.com
Despite the great diversity of vertebrate limb proportion and our deep understanding of the
genetic mechanisms that drive skeletal elongation, little is known about how individual …