Neuroimaging standards for research into small vessel disease—advances since 2013

M Duering, GJ Biessels, A Brodtmann, C Chen… - The Lancet …, 2023‏ - thelancet.com
Cerebral small vessel disease (SVD) is common during ageing and can present as stroke,
cognitive decline, neurobehavioural symptoms, or functional impairment. SVD frequently …

Roles of transposable elements in the regulation of mammalian transcription

R Fueyo, J Judd, C Feschotte, J Wysocka - Nature reviews Molecular …, 2022‏ - nature.com
Transposable elements (TEs) comprise about half of the mammalian genome. TEs often
contain sequences capable of recruiting the host transcription machinery, which they use to …

Genome-wide association studies

E Uffelmann, QQ Huang, NS Munung… - Nature Reviews …, 2021‏ - nature.com
Genome-wide association studies (GWAS) test hundreds of thousands of genetic variants
across many genomes to find those statistically associated with a specific trait or disease …

Transforming Cardiovascular Care With Artificial Intelligence: From Discovery to Practice: JACC State-of-the-Art Review

R Khera, EK Oikonomou, GN Nadkarni… - Journal of the American …, 2024‏ - jacc.org
Artificial intelligence (AI) has the potential to transform every facet of cardiovascular practice
and research. The exponential rise in technology powered by AI is defining new frontiers in …

Machine learning for multi-omics data integration in cancer

Z Cai, RC Poulos, J Liu, Q Zhong - Iscience, 2022‏ - cell.com
Multi-omics data analysis is an important aspect of cancer molecular biology studies and
has led to ground-breaking discoveries. Many efforts have been made to develop machine …

Current trends, limitations and future research in the fungi?

KD Hyde, P Baldrian, Y Chen, KW Thilini Chethana… - Fungal Diversity, 2024‏ - Springer
The field of mycology has grown from an underappreciated subset of botany, to a valuable,
modern scientific discipline. As this field of study has grown, there have been significant …

Enhancer redundancy in development and disease

EZ Kvon, R Waymack, M Gad, Z Wunderlich - Nature Reviews Genetics, 2021‏ - nature.com
Shadow enhancers are seemingly redundant transcriptional cis-regulatory elements that
regulate the same gene and drive overlap** expression patterns. Recent studies have …

The Singapore national precision medicine strategy

E Wong, N Bertin, M Hebrard, R Tirado-Magallanes… - Nature Genetics, 2023‏ - nature.com
Precision medicine promises to transform healthcare for groups and individuals through
early disease detection, refining diagnoses and tailoring treatments. Analysis of large-scale …

PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework

AJM Dingemans, M Hinne, KMG Truijen, L Goltstein… - Nature Genetics, 2023‏ - nature.com
Several molecular and phenotypic algorithms exist that establish genotype–phenotype
correlations, including facial recognition tools. However, no unified framework that …

Analysis of clinically relevant variants from ancestrally diverse Asian genomes

SH Chan, Y Bylstra, JX Teo, JL Kuan, N Bertin… - Nature …, 2022‏ - nature.com
Asian populations are under-represented in human genomics research. Here, we
characterize clinically significant genetic variation in 9051 genomes representing East …