Characterising novel genetic causes of growth failure

E Cottrell - 2023 - qmro.qmul.ac.uk
To identify novel genetic causes of growth failure, I developed a unique, targeted whole
gene panel for rapid and accurate genetic testing of patients with short stature and features …

Prediction of transcription factor binding using epigenomics and genome variation data

N Baumgarten - 2023 - publikationen.ub.uni-frankfurt.de
A central concern in genetics is to identify mechanisms of transcriptional regulation. The aim
is to unravel the mapping between the DNA sequence and gene expression. However, it …

[PDF][PDF] Identifying Key Transcription Factors of Cellular Mechanisms in Single-Cell Environment for Regenerative Medicine

M Messias de Jesus Rufino Ribeiro - 2023 - orbilu.uni.lu
Regenerative medicine holds great potential as a therapeutical tool that can be used to
tackle the rising incidence of neurodegenerative diseases and other brain disorders. There …

Intégration d'annotations fonctionnelles dans les tests d'agrégation de variants rares sous vraisemblance rétrospective dans le cadre de devis familiaux

L Mangnier - 2022 - corpus.ulaval.ca
Résumé Depuis ces vingt dernières années et la démocratisation des technologies de
séquençage haut débit de l'ADN, l'accessibilité des données génomiques a permis le …

[引用][C] The influence of genetic and environmental factors on inter-individual and inter-population variations

F Cheng - 2024 - espace.library.uq.edu.au
Humans exhibit a diverse range of variations in complex traits including behaviors and
diseases. The trait variations within and between populations, also known as inter-individual …