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 …
human genome and then a detailed catalogue of human genome variation associated with …
Alzheimer's disease: an updated overview of its genetics
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 …
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 …
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
Understanding gene function and regulation in homeostasis and disease requires
knowledge of the cellular and tissue contexts in which genes are expressed. Here, we …
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 …
and myeloproliferative neoplasms. Most cases arise from the shared ancestor of clonal …
Gene–environment interactions and their impact on human health
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 …
genetic and environmental factors contribute to a given disease or phenotype in a non …
Update on NAFLD genetics: from new variants to the clinic
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 …
income countries and the burden of NAFLD is increasing at an alarming rate. The risk of …
Applications of multi‐omics analysis in human diseases
Multi‐omics usually refers to the crossover application of multiple high‐throughput screening
technologies represented by genomics, transcriptomics, single‐cell transcriptomics …
technologies represented by genomics, transcriptomics, single‐cell transcriptomics …
[HTML][HTML] A cross-disorder dosage sensitivity map of the human genome
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 …
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
Background Alzheimer's disease is a debilitating and highly heritable neurological
condition. As such, genetic studies have sought to understand the genetic architecture of …
condition. As such, genetic studies have sought to understand the genetic architecture of …