Sociotechnical safeguards for genomic data privacy

Z Wan, JW Hazel, EW Clayton, Y Vorobeychik… - Nature Reviews …, 2022 - nature.com
Recent developments in a variety of sectors, including health care, research and the direct-
to-consumer industry, have led to a dramatic increase in the amount of genomic data that …

Understanding the promises and hurdles of metagenomic next-generation sequencing as a diagnostic tool for infectious diseases

PJ Simner, S Miller, KC Carroll - Clinical Infectious Diseases, 2018 - academic.oup.com
Agnostic metagenomic next-generation sequencing (mNGS) has emerged as a promising
single, universal pathogen detection method for infectious disease diagnostics. This …

CADD v1. 7: using protein language models, regulatory CNNs and other nucleotide-level scores to improve genome-wide variant predictions

M Schubach, T Maass, L Nazaretyan… - Nucleic acids …, 2024 - academic.oup.com
Abstract Machine Learning-based scoring and classification of genetic variants aids the
assessment of clinical findings and is employed to prioritize variants in diverse genetic …

[PDF][PDF] PATE-GAN: Generating synthetic data with differential privacy guarantees

J Jordon, J Yoon, M Van Der Schaar - International conference on …, 2018 - openreview.net
Machine learning has the potential to assist many communities in using the large datasets
that are becoming more and more available. Unfortunately, much of that potential is not …

Generating multi-label discrete patient records using generative adversarial networks

E Choi, S Biswal, B Malin, J Duke… - Machine learning …, 2017 - proceedings.mlr.press
Access to electronic health record (EHR) data has motivated computational advances in
medical research. However, various concerns, particularly over privacy, can limit access to …

Privacy challenges and research opportunities for genomic data sharing

L Bonomi, Y Huang, L Ohno-Machado - Nature genetics, 2020 - nature.com
The sharing of genomic data holds great promise in advancing precision medicine and
providing personalized treatments and other types of interventions. However, these …

Big data: astronomical or genomical?

ZD Stephens, SY Lee, F Faghri, RH Campbell… - PLoS …, 2015 - journals.plos.org
Genomics is a Big Data science and is going to get much bigger, very soon, but it is not
known whether the needs of genomics will exceed other Big Data domains. Projecting to the …

Anonymization through data synthesis using generative adversarial networks (ads-gan)

J Yoon, LN Drumright… - IEEE journal of …, 2020 - ieeexplore.ieee.org
The medical and machine learning communities are relying on the promise of artificial
intelligence (AI) to transform medicine through enabling more accurate decisions and …

Identity inference of genomic data using long-range familial searches

Y Erlich, T Shor, I Pe'er, S Carmi - Science, 2018 - science.org
Consumer genomics databases have reached the scale of millions of individuals. Recently,
law enforcement authorities have exploited some of these databases to identify suspects via …

Dissecting the genetics of complex traits using summary association statistics

B Pasaniuc, AL Price - Nature reviews genetics, 2017 - nature.com
During the past decade, genome-wide association studies (GWAS) have been used to
successfully identify tens of thousands of genetic variants associated with complex traits and …