Obtaining genetics insights from deep learning via explainable artificial intelligence

G Novakovsky, N Dexter, MW Libbrecht… - Nature Reviews …, 2023 - nature.com
Artificial intelligence (AI) models based on deep learning now represent the state of the art
for making functional predictions in genomics research. However, the underlying basis on …

Exploring tissue architecture using spatial transcriptomics

A Rao, D Barkley, GS França, I Yanai - Nature, 2021 - nature.com
Deciphering the principles and mechanisms by which gene activity orchestrates complex
cellular arrangements in multicellular organisms has far-reaching implications for research …

[HTML][HTML] Highly accurate protein structure prediction for the human proteome

K Tunyasuvunakool, J Adler, Z Wu, T Green, M Zielinski… - Nature, 2021 - nature.com
Protein structures can provide invaluable information, both for reasoning about biological
processes and for enabling interventions such as structure-based drug development or …

A proximity-dependent biotinylation map of a human cell

CD Go, JDR Knight, A Rajasekharan, B Rathod… - Nature, 2021 - nature.com
Compartmentalization is a defining characteristic of eukaryotic cells, and partitions distinct
biochemical processes into discrete subcellular locations. Microscopy and biochemical …

Decoding myofibroblast origins in human kidney fibrosis

C Kuppe, MM Ibrahim, J Kranz, X Zhang, S Ziegler… - Nature, 2021 - nature.com
Kidney fibrosis is the hallmark of chronic kidney disease progression; however, at present
no antifibrotic therapies exist,–. The origin, functional heterogeneity and regulation of scar …

Epigenetic silencing by SETDB1 suppresses tumour intrinsic immunogenicity

GK Griffin, J Wu, A Iracheta-Vellve, JC Patti, J Hsu… - Nature, 2021 - nature.com
Epigenetic dysregulation is a defining feature of tumorigenesis that is implicated in immune
escape,. Here, to identify factors that modulate the immune sensitivity of cancer cells, we …

[HTML][HTML] Regulatory genomic circuitry of human disease loci by integrative epigenomics

CA Boix, BT James, YP Park, W Meuleman, M Kellis - Nature, 2021 - nature.com
Annotating the molecular basis of human disease remains an unsolved challenge, as 93%
of disease loci are non-coding and gene-regulatory annotations are highly incomplete …

[HTML][HTML] Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program

D Taliun, DN Harris, MD Kessler, J Carlson… - Nature, 2021 - nature.com
Abstract The Trans-Omics for Precision Medicine (TOPMed) programme seeks to elucidate
the genetic architecture and biology of heart, lung, blood and sleep disorders, with the …

[HTML][HTML] A new genomic blueprint of the human gut microbiota

A Almeida, AL Mitchell, M Boland, SC Forster, GB Gloor… - Nature, 2019 - nature.com
The composition of the human gut microbiota is linked to health and disease, but knowledge
of individual microbial species is needed to decipher their biological roles. Despite …

Mendelian randomization accounting for correlated and uncorrelated pleiotropic effects using genome-wide summary statistics

J Morrison, N Knoblauch, JH Marcus, M Stephens… - Nature …, 2020 - nature.com
Mendelian randomization (MR) is a valuable tool for detecting causal effects by using
genetic variant associations. Opportunities to apply MR are growing rapidly with the …