Detecting gene–gene interactions that underlie human diseases

HJ Cordell - Nature Reviews Genetics, 2009 - nature.com
Following the identification of several disease-associated polymorphisms by genome-wide
association (GWA) analysis, interest is now focusing on the detection of effects that, owing to …

Bioinformatics challenges for genome-wide association studies

JH Moore, FW Asselbergs, SM Williams - Bioinformatics, 2010 - academic.oup.com
Motivation: The sequencing of the human genome has made it possible to identify an
informative set of> 1 million single nucleotide polymorphisms (SNPs) across the genome …

The Matthews correlation coefficient (MCC) is more reliable than balanced accuracy, bookmaker informedness, and markedness in two-class confusion matrix …

D Chicco, N Tötsch, G Jurman - BioData mining, 2021 - Springer
Evaluating binary classifications is a pivotal task in statistics and machine learning, because
it can influence decisions in multiple areas, including for example prognosis or therapies of …

Melanoma diagnosis using deep learning techniques on dermatoscopic images

MF Jojoa Acosta, LY Caballero Tovar… - BMC Medical …, 2021 - Springer
Background Melanoma has become more widespread over the past 30 years and early
detection is a major factor in reducing mortality rates associated with this type of skin cancer …

TPOT: A tree-based pipeline optimization tool for automating machine learning

RS Olson, JH Moore - Workshop on automatic machine …, 2016 - proceedings.mlr.press
As data science becomes more mainstream, there will be an ever-growing demand for data
science tools that are more accessible, flexible, and scalable. In response to this demand …

Evaluation of a tree-based pipeline optimization tool for automating data science

RS Olson, N Bartley, RJ Urbanowicz… - Proceedings of the genetic …, 2016 - dl.acm.org
As the field of data science continues to grow, there will be an ever-increasing demand for
tools that make machine learning accessible to non-experts. In this paper, we introduce the …

PMLB: a large benchmark suite for machine learning evaluation and comparison

RS Olson, W La Cava, P Orzechowski, RJ Urbanowicz… - BioData mining, 2017 - Springer
Background The selection, development, or comparison of machine learning methods in
data mining can be a difficult task based on the target problem and goals of a particular …

Data-driven advice for applying machine learning to bioinformatics problems

RS Olson, WL Cava, Z Mustahsan, A Varik… - Pacific symposium on …, 2018 - World Scientific
As the bioinformatics field grows, it must keep pace not only with new data but with new
algorithms. Here we contribute a thorough analysis of 13 state-of-the-art, commonly used …

The balanced accuracy and its posterior distribution

KH Brodersen, CS Ong, KE Stephan… - … conference on pattern …, 2010 - ieeexplore.ieee.org
Evaluating the performance of a classification algorithm critically requires a measure of the
degree to which unseen examples have been identified with their correct class labels. In …

BOOST: A fast approach to detecting gene-gene interactions in genome-wide case-control studies

X Wan, C Yang, Q Yang, H Xue, X Fan… - The American Journal of …, 2010 - cell.com
Gene-gene interactions have long been recognized to be fundamentally important for
understanding genetic causes of complex disease traits. At present, identifying gene-gene …