相关论文: Estimating trans-ancestry genetic correlation with…

Training complex machine learning models for prediction often requires a large amount of data that is not always readily available. Leveraging these external datasets from related but different sources is therefore an important task if good…

Learning with imbalanced data is a challenging problem in deep learning. Over-sampling is a widely used technique to re-balance the sampling distribution of training data. However, most existing over-sampling methods only use intra-class…

A probabilistic reconstruction of genealogies in a polyploid population (from 2x to 4x) is investigated, by considering genetic data analyzed as the probability of allele presence in a given genotype. Based on the likelihood of all possible…

There are many instances in genetics in which we wish to determine whether two candidate populations are distinguishable on the basis of their genetic structure. Examples include populations which are geographically separated, case--control…

In linear regression models with non-Gaussian errors, transformations of the response variable are widely used in a broad range of applications. Motivated by various genetic association studies, transformation methods for hypothesis testing…

This article evaluates bias in one class of methods used to estimate archaic admixture in modern humans. These methods study the pattern of allele sharing among modern and archaic genomes. They are sensitive to "ghost" admixture, which…

AI systems have been shown to produce unfair results for certain subgroups of population, highlighting the need to understand bias on certain sensitive attributes. Current research often falls short, primarily focusing on the subgroups…

Learning from imbalanced data is one of the most significant challenges in real-world classification tasks. In such cases, neural networks performance is substantially impaired due to preference towards the majority class. Existing…

Replication helps ensure that a genotype-phenotype association observed in a genome-wide association (GWA) study represents a credible association and is not a chance finding or an artifact due to uncontrolled biases. We discuss…

Repetitions within a given genealogical tree provides some information about the degree of consanguineity of a population. They can be analyzed with techniques usually employed in statistical physics when dealing with fixed point…

Mounting evidence suggests that natural populations can harbor extensive fitness diversity with numerous genomic loci under selection. It is also known that genealogical trees for populations under selection are quantifiably different from…

In this paper, a robust weighted score for unbalanced data (ROWSU) is proposed for selecting the most discriminative feature for high dimensional gene expression binary classification with class-imbalance problem. The method addresses one…

The genetic diversity of a species is shaped by its recent evolutionary history and can be used to infer demographic events or selective sweeps. Most inference methods are based on the null hypothesis that natural selection is a weak or…

Horizontal gene transfer inference approaches are usually based on gene sequences: parametric methods search for patterns that deviate from a particular genomic signature, while phylogenetic methods use sequences to reconstruct the gene and…

Whole and targeted sequencing of human genomes is a promising, increasingly feasible tool for discovering genetic contributions to risk of complex diseases. A key step is calling an individual's genotype from the multiple aligned short read…

Admixture mapping is a popular tool to identify regions of the genome associated with traits in a recently admixed population. Existing methods have been developed primarily for identification of a single locus influencing a dichotomous…

Methods to effectively detect multi-locus genetic association are becoming increasingly relevant in the genetic dissection of complex trait in humans. Current approaches typically consider a limited number of hypotheses, most of which are…

It is now well documented that genetic covariance between functionally related traits leads to an uneven distribution of genetic variation across multivariate trait combinations, and possibly a large part of phenotype-space that is…

The genetic structure of human populations is extraordinarily complex and of fundamental importance to studies of anthropology, evolution, and medicine. As increasingly many individuals are of mixed origin, there is an unmet need for tools…

Despite remarkable performance in producing realistic samples, Generative Adversarial Networks (GANs) often produce low-quality samples near low-density regions of the data manifold, e.g., samples of minor groups. Many techniques have been…