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The decreasing costs and increasing speed and accuracy of DNA sample collection, preparation, and sequencing has rapidly produced an enormous volume of genetic data. However, fast and accurate analysis of the samples remains a bottleneck.…

Quantitative Methods · Quantitative Biology 2017-04-13 Stephanie Dodson , Darrell O. Ricke , Jeremy Kepner , Nelson Chiu , Anna Shcherbina

High-throughput shotgun sequence data makes it possible in principle to accurately estimate population genetic parameters without confounding by SNP ascertainment bias. One such statistic of interest is the proportion of heterozygous sites…

Populations and Evolution · Quantitative Biology 2012-12-18 Katarzyna Bryc , Nick Patterson , David Reich

Genome-wide proximity placement analysis of 10,598 HSGRL within the context of the principal regulatory structures of the interphase chromatin, namely topologically-associating domains (TADs) and specific sub-TAD structures termed…

Genomics · Quantitative Biology 2015-07-21 Gennadi Glinsky

In recent years, there has been an increasing demand on efficient algorithms for large scale change point detection problems. To this end, we propose seeded binary segmentation, an approach relying on a deterministic construction of…

Methodology · Statistics 2023-03-13 Solt Kovács , Housen Li , Peter Bühlmann , Axel Munk

This paper introduces a novel framework for DNA sequence generation, comprising two key components: DiscDiff, a Latent Diffusion Model (LDM) tailored for generating discrete DNA sequences, and Absorb-Escape, a post-training algorithm…

Genomics · Quantitative Biology 2024-04-18 Zehui Li , Yuhao Ni , William A V Beardall , Guoxuan Xia , Akashaditya Das , Guy-Bart Stan , Yiren Zhao

Automatic detecting anomalous regions in images of objects or textures without priors of the anomalies is challenging, especially when the anomalies appear in very small areas of the images, making difficult-to-detect visual variations,…

Computer Vision and Pattern Recognition · Computer Science 2022-07-05 Jie Yang , Yong Shi , Zhiquan Qi

Semi-supervised medical image segmentation aims to leverage minimal expert annotations, yet remains confronted by challenges in maintaining high-quality consistency learning. Excessive perturbations can degrade alignment and hinder precise…

Computer Vision and Pattern Recognition · Computer Science 2025-04-04 Wenbo Xiao , Zhihao Xu , Guiping Liang , Yangjun Deng , Yi Xiao

Semi-supervised medical image segmentation (SSMIS) has been demonstrated the potential to mitigate the issue of limited medical labeled data. However, confirmation and cognitive biases may affect the prevalent teacher-student based SSMIS…

Image and Video Processing · Electrical Eng. & Systems 2024-10-07 Bentao Song , Qingfeng Wang

Scene Graph Generation (SGG) aims to generate a comprehensive graphical representation that accurately captures the semantic information of a given scenario. However, the SGG model's performance in predicting more fine-grained predicates is…

Computer Vision and Pattern Recognition · Computer Science 2024-08-27 Jiasong Feng , Lichun Wang , Hongbo Xu , Kai Xu , Baocai Yin

Several experiments show that the three dimensional (3D) organization of chromosomes affects genetic processes such as transcription and gene regulation. To better understand this connection, researchers developed the Hi-C method that is…

Genomics · Quantitative Biology 2019-05-03 Sang Hoon Lee , Yeonghoon Kim , Sungmin Lee , Xavier Durang , Per Stenberg , Jae-Hyung Jeon , Ludvig Lizana

Linkage disequilibrium score regression (LDSC) has emerged as an essential tool for genetic and genomic analyses of complex traits, utilizing high-dimensional data derived from genome-wide association studies (GWAS). LDSC computes the…

Methodology · Statistics 2025-04-16 Fei Xue , Bingxin Zhao

Sequencing a genome to determine an individual's DNA produces an enormous number of short nucleotide subsequences known as reads, which must be reassembled to reconstruct the full genome. We present a method for analyzing this type of data…

Machine Learning · Computer Science 2025-05-23 Filip Thor , Carl Nettelblad

Sparse code multiple access (SCMA) is a new multiple access technique which supports massive connectivity. Compared with the current Long Term Evolution (LTE) system, it enables the overloading of active users on limited orthogonal…

Information Theory · Computer Science 2016-11-29 Chenchen Zhang , Yuan Luo , Yan Chen

Motivation: Sparse autoencoders (SAEs) decompose foundation model activations into interpretable features, but causal feature-to-feature interactions across network depth remain unknown for biological foundation models. Results: We…

Machine Learning · Computer Science 2026-03-05 Ihor Kendiukhov

After the recent advancement of sequencing strategies, mirror repeats have been found to be present in the gene sequence of many organisms and species. This presence of mirror repeats in most of the sequences indicates towards some…

Genomics · Quantitative Biology 2013-12-16 Bhardwaj Vikash , Gupta Swapni , Meena Sitaram , Sharma Kulbhushan

Training deep networks for semantic segmentation requires large amounts of labeled training data, which presents a major challenge in practice, as labeling segmentation masks is a highly labor-intensive process. To address this issue, we…

Computer Vision and Pattern Recognition · Computer Science 2021-08-31 Lukas Hoyer , Dengxin Dai , Qin Wang , Yuhua Chen , Luc Van Gool

Sequence labeling (SL) is a fundamental research problem encompassing a variety of tasks, e.g., part-of-speech (POS) tagging, named entity recognition (NER), text chunking, etc. Though prevalent and effective in many downstream applications…

Computation and Language · Computer Science 2020-11-16 Zhiyong He , Zanbo Wang , Wei Wei , Shanshan Feng , Xianling Mao , Sheng Jiang

Semantic segmentation of electron microscopy (EM) images of biological samples remains a challenge in the life sciences. EM data captures details of biological structures, sometimes with such complexity that even human observers can find it…

Computer Vision and Pattern Recognition · Computer Science 2025-11-03 Sheida Rahnamai Kordasiabi , Damian Dalle Nogare , Florian Jug

The self-consistent field (SCF) generation of the three-dimensional (3D) electron density distribution ($\rho$) represents a fundamental aspect of density functional theory (DFT) and related first-principles calculations, and how one can…

Computational Physics · Physics 2024-11-19 Ryong-Gyu Lee , Yong-Hoon Kim

Spatially variant dynamic convolution provides a principled approach of integrating spatial adaptivity into deep neural networks. However, mainstream designs in medical segmentation commonly generate dynamic kernels through average pooling,…

Image and Video Processing · Electrical Eng. & Systems 2026-03-02 Bo Shi , Wei-ping Zhu , M. N. S. Swamy