Nature Search

A statistical framework for multi-trait rare variant analysis in large-scale whole-genome sequencing studies

MultiSTAAR provides a general and flexible statistical framework for functionally informed multi-trait rare variant analysis of biobank-scale sequencing studies by jointly analyzing multiple traits and incorporating annotation information.

Xihao Li
Han Chen
Xihong Lin
Research07 Feb 2025
Nature Computational Science

Volume: 5, P: 125-143
Inference of chronic obstructive pulmonary disease with deep learning on raw spirograms identifies new genetic loci and improves risk models

A deep convolutional neural network calculates liability scores for chronic obstructive pulmonary disease (COPD) from raw spirogram traces and noisy medical-record-based labels in the UK Biobank. Genome-wide analyses using these scores replicate known loci for lung function and identify 67 new disease loci.

Justin Cosentino
Babak Behsaz
Farhad Hormozdiari
Research17 Apr 2023
Nature Genetics

Volume: 55, P: 787-795
DeepNull models non-linear covariate effects to improve phenotypic prediction and association power

GWAS often assume a linear phenotype-covariate relationship which may not hold in practice. Here the authors present DeepNull, in which they apply deep learning to identify and adjust for complex non-linear relationships, improving phenotypic prediction and GWAS power.

Zachary R. McCaw
Thomas Colthurst
Farhad Hormozdiari
ResearchOpen Access11 Jan 2022
Nature Communications

Volume: 13, P: 1-10
Unsupervised representation learning on high-dimensional clinical data improves genomic discovery and prediction

Representation Learning for Genetic Discovery on Low-Dimensional Embeddings (REGLE) uses machine learning to generate low-dimensional representations of healthcare data. Applied to lung spirograms and blood volume photoplethysmograms, REGLE factors capture additional information beyond expert-defined features, suggesting the utility of this approach.

Taedong Yun
Justin Cosentino
Farhad Hormozdiari
ResearchOpen Access08 Jul 2024
Nature Genetics

Volume: 56, P: 1604-1613
Genomic imprinting and gene activation in cancer

Andrew P. Feinberg
News & Views01 Jun 1993
Nature Genetics

Volume: 4, P: 110-113
Matrix metalloproteinases and the regulation of tissue remodelling

New insights from mouse, Drosophila melanogaster and human studies have shed light on the functions of matrix metalloproteinases (MMPs) as active regulators of embryonic development, tissue remodelling and tissue repair in response to injury, infection or disease.

Andrea Page-McCaw
Andrew J. Ewald
Zena Werb
Reviews01 Mar 2007
Nature Reviews Molecular Cell Biology

Volume: 8, P: 221-233
Ligand-dependent hedgehog signaling maintains an undifferentiated, malignant osteosarcoma phenotype

Vijesh G. Vaghjiani
Catherine R. Cochrane
Jason E. Cain
ResearchOpen Access16 Oct 2023
Oncogene

Volume: 42, P: 3529-3541
The tumor suppressor Hic1 maintains chromosomal stability independent of Tp53

Anette Szczepny
Kirstyn Carey
D. Neil Watkins
ResearchOpen Access25 Jan 2018
Oncogene

Volume: 37, P: 1939-1948

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