Single-cell technologies to decipher cardiovascular diseases

WT Abplanalp, N Tucker, S Dimmeler - European Heart Journal, 2022 - academic.oup.com
Cardiovascular disease remains the leading cause of death worldwide. A deeper
understanding of the multicellular composition and molecular processes may help to identify …

Computational methods for allele-specific expression in single cells

G Qi, A Battle - Trends in Genetics, 2024 - cell.com
Allele-specific expression (ASE) is a powerful signal that can be used to investigate multiple
molecular mechanisms, such as cis-regulatory effects and imprinting. Single-cell RNA …

[HTML][HTML] SEESAW: detecting isoform-level allelic imbalance accounting for inferential uncertainty

EY Wu, NP Singh, K Choi, M Zakeri, M Vincent… - Genome biology, 2023 - Springer
Detecting allelic imbalance at the isoform level requires accounting for inferential
uncertainty, caused by multi-mapping of RNA-seq reads. Our proposed method, SEESAW …

Perspectives on allele-specific expression

S Cleary, C Seoighe - Annual Review of Biomedical Data …, 2021 - annualreviews.org
Diploidy has profound implications for population genetics and susceptibility to genetic
diseases. Although two copies are present for most genes in the human genome, they are …

[HTML][HTML] scDALI: modeling allelic heterogeneity in single cells reveals context-specific genetic regulation

T Heinen, S Secchia, JP Reddington, B Zhao… - Genome biology, 2022 - Springer
While it is established that the functional impact of genetic variation can vary across cell
types and states, capturing this diversity remains challenging. Current studies using bulk …

Airpart: interpretable statistical models for analyzing allelic imbalance in single-cell datasets

W Mu, H Sarkar, A Srivastava, K Choi, R Patro… - …, 2022 - academic.oup.com
Motivation Allelic expression analysis aids in detection of cis-regulatory mechanisms of
genetic variation, which produce allelic imbalance (AI) in heterozygotes. Measuring AI in …

Applications of single-cell genomics and computational strategies to study common disease and population-level variation

BJ Auerbach, J Hu, MP Reilly, M Li - Genome Research, 2021 - genome.cshlp.org
The advent and rapid development of single-cell technologies have made it possible to
study cellular heterogeneity at an unprecedented resolution and scale. Cellular …

[HTML][HTML] The phased chromosome-scale genome of yellowhorn sheds light on the mechanism of petal color change

Q Bi, M Wang, J Li, J Lian, Y Niu, Y Cui, X Liu… - Horticultural Plant …, 2023 - Elsevier
Yellowhorn (Xanthoceras sorbifolium), especially its varieties, is the red petal yellowhorn (X.
sorbifolium var. purpurea), an important tree species with great ornamental value, and its …

[HTML][HTML] DeCAF: a novel method to identify cell-type specific regulatory variants and their role in cancer risk

CA Kalita, A Gusev - Genome Biology, 2022 - Springer
Abstract Here, we propose DeCAF (DEconvoluted cell type Allele specific Function), a new
method to identify cell-fraction (cf) QTLs in tumors by leveraging both allelic and total …

Beyond conflict: Kinship theory of intragenomic conflict predicts individual variation in altruistic behaviour

ST Bresnahan, D Galbraith, R Ma, K Anton… - Molecular …, 2023 - Wiley Online Library
Behavioural variation is essential for animals to adapt to different social and environmental
conditions. The Kinship Theory of Intragenomic Conflict (KTIC) predicts that parent‐specific …