Polygenic enrichment distinguishes disease associations of individual cells in single-cell RNA-seq data
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 …
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
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 …
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 …
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 …
altering chondrocyte developmental programs. This adaptive process was likely not without …
The developmental impacts of natural selection on human pelvic morphology
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 …
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
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 …
introduce covariate-adjusted linkage disequilibrium (LD) score regression (cov-LDSC), a …
[HTML][HTML] Joint disease-specificity at the regulatory base-pair level
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 …
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 …
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 …
growth plate cartilage development in humans, we used our directed differentiation …
[HTML][HTML] Interspecies transcriptomics identify genes that underlie disproportionate foot growth in jerboas
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 …
genetic mechanisms that drive skeletal elongation, little is known about how individual …