scholarly journals diploS/HIC: an updated approach to classifying selective sweeps

2018 ◽  
Author(s):  
Andrew D. Kern ◽  
Daniel R. Schrider
Keyword(s):  
Machine Learning ◽  
Genomic Data ◽  
Difficult Problem ◽  
Small Sample ◽  
Supervised Machine Learning ◽  
Learning Approach ◽  
Selective Sweeps ◽  
Machine Learning Approach ◽  
Small Sample Sizes ◽  
Soft Selective Sweeps

AbstractIdentifying selective sweeps in populations that have complex demographic histories remains a difficult problem in population genetics. We previously introduced a supervised machine learning approach, S/HIC, for finding both hard and soft selective sweeps in genomes on the basis of patterns of genetic variation surrounding a window of the genome. While S/HIC was shown to be both powerful and precise, the utility of S/HIC was limited by the use of phased genomic data as input. In this report we describe a deep learning variant of our method, diploS/HIC, that uses unphased genotypes to accurately classify genomic windows. diploS/HIC is shown to be quite powerful even at moderate to small sample sizes

Mol2vec: Unsupervised Machine Learning Approach with Chemical Intuition

2017 ◽  
Author(s):  
Sabrina Jaeger ◽  
Simone Fulle ◽  
Samo Turk
Keyword(s):  
Machine Learning ◽  
Language Processing ◽  
Supervised Machine Learning ◽  
Learning Approach ◽  
Learning Approaches ◽  
Unsupervised Machine Learning ◽  
Feature Representations ◽  
Machine Learning Approach ◽  
The Individual ◽  
Vector Representations

Inspired by natural language processing techniques we here introduce Mol2vec which is an unsupervised machine learning approach to learn vector representations of molecular substructures. Similarly, to the Word2vec models where vectors of closely related words are in close proximity in the vector space, Mol2vec learns vector representations of molecular substructures that are pointing in similar directions for chemically related substructures. Compounds can finally be encoded as vectors by summing up vectors of the individual substructures and, for instance, feed into supervised machine learning approaches to predict compound properties. The underlying substructure vector embeddings are obtained by training an unsupervised machine learning approach on a so-called corpus of compounds that consists of all available chemical matter. The resulting Mol2vec model is pre-trained once, yields dense vector representations and overcomes drawbacks of common compound feature representations such as sparseness and bit collisions. The prediction capabilities are demonstrated on several compound property and bioactivity data sets and compared with results obtained for Morgan fingerprints as reference compound representation. Mol2vec can be easily combined with ProtVec, which employs the same Word2vec concept on protein sequences, resulting in a proteochemometric approach that is alignment independent and can be thus also easily used for proteins with low sequence similarities.

scholarly journals A Machine Learning Approach to Reveal the NeuroPhenotypes of Autisms

2019 ◽  
Vol 29 (07) ◽  
pp. 1850058 ◽  
Author(s):  
Juan M. Górriz ◽  
Javier Ramírez ◽  
F. Segovia ◽  
Francisco J. Martínez ◽  
Meng-Chuan Lai ◽  
...  
Keyword(s):  
Machine Learning ◽  
Brain Structure ◽  
Feature Space ◽  
Classification Problem ◽  
Small Sample ◽  
Biological Sex ◽  
Machine Learning Approach ◽  
Learning Machine ◽  
Small Sample Sizes ◽  
Low Dimensional

Although much research has been undertaken, the spatial patterns, developmental course, and sexual dimorphism of brain structure associated with autism remains enigmatic. One of the difficulties in investigating differences between the sexes in autism is the small sample sizes of available imaging datasets with mixed sex. Thus, the majority of the investigations have involved male samples, with females somewhat overlooked. This paper deploys machine learning on partial least squares feature extraction to reveal differences in regional brain structure between individuals with autism and typically developing participants. A four-class classification problem (sex and condition) is specified, with theoretical restrictions based on the evaluation of a novel upper bound in the resubstitution estimate. These conditions were imposed on the classifier complexity and feature space dimension to assure generalizable results from the training set to test samples. Accuracies above [Formula: see text] on gray and white matter tissues estimated from voxel-based morphometry (VBM) features are obtained in a sample of equal-sized high-functioning male and female adults with and without autism ([Formula: see text], [Formula: see text]/group). The proposed learning machine revealed how autism is modulated by biological sex using a low-dimensional feature space extracted from VBM. In addition, a spatial overlap analysis on reference maps partially corroborated predictions of the “extreme male brain” theory of autism, in sexual dimorphic areas.

Sign in / Sign up

Export Citation Format

Share Document