A new era in functional genomics screens

L Przybyla, LA Gilbert - Nature Reviews Genetics, 2022 - nature.com
The past 25 years of genomics research first revealed which genes are encoded by the
human genome and then a detailed catalogue of human genome variation associated with …

Alzheimer's disease: an updated overview of its genetics

J Andrade-Guerrero, A Santiago-Balmaseda… - International journal of …, 2023 - mdpi.com
Alzheimer's disease (AD) is the most common neurodegenerative disease in the world. It is
classified as familial and sporadic. The dominant familial or autosomal presentation …

Schizophrenia risk from complex variation of complement component 4

A Sekar, AR Bialas, H De Rivera, A Davis… - Nature, 2016 - nature.com
Schizophrenia is a heritable brain illness with unknown pathogenic mechanisms.
Schizophrenia's strongest genetic association at a population level involves variation in the …

Single-nucleus cross-tissue molecular reference maps toward understanding disease gene function

G Eraslan, E Drokhlyansky, S Anand, E Fiskin… - Science, 2022 - science.org
Understanding gene function and regulation in homeostasis and disease requires
knowledge of the cellular and tissue contexts in which genes are expressed. Here, we …

Multiparameter prediction of myeloid neoplasia risk

M Gu, SC Kovilakam, WG Dunn, L Marando… - Nature …, 2023 - nature.com
The myeloid neoplasms encompass acute myeloid leukemia, myelodysplastic syndromes
and myeloproliferative neoplasms. Most cases arise from the shared ancestor of clonal …

Gene–environment interactions and their impact on human health

SJ Virolainen, A VonHandorf, KCMF Viel… - Genes & …, 2023 - nature.com
The molecular processes underlying human health and disease are highly complex. Often,
genetic and environmental factors contribute to a given disease or phenotype in a non …

Update on NAFLD genetics: from new variants to the clinic

E Trépo, L Valenti - Journal of hepatology, 2020 - Elsevier
Non-alcoholic fatty liver disease (NAFLD) is the leading cause of liver diseases in high-
income countries and the burden of NAFLD is increasing at an alarming rate. The risk of …

Applications of multi‐omics analysis in human diseases

C Chen, J Wang, D Pan, X Wang, Y Xu, J Yan… - MedComm, 2023 - Wiley Online Library
Multi‐omics usually refers to the crossover application of multiple high‐throughput screening
technologies represented by genomics, transcriptomics, single‐cell transcriptomics …

[HTML][HTML] A cross-disorder dosage sensitivity map of the human genome

RL Collins, JT Glessner, E Porcu, M Lepamets… - Cell, 2022 - cell.com
Rare copy-number variants (rCNVs) include deletions and duplications that occur
infrequently in the global human population and can confer substantial risk for disease. In …

Interpretation of risk loci from genome-wide association studies of Alzheimer's disease

SJ Andrews, B Fulton-Howard, A Goate - The Lancet Neurology, 2020 - thelancet.com
Background Alzheimer's disease is a debilitating and highly heritable neurological
condition. As such, genetic studies have sought to understand the genetic architecture of …