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Related papers: Refinement of genetic variants needs attention

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Variant calling, the problem of estimating whether a position in a DNA sequence differs from a reference sequence, given noisy, redundant, overlapping short sequences that cover that position, is fundamental to genomics. We propose a deep…

Genomics · Quantitative Biology 2020-03-17 Nikolai Yakovenko , Avantika Lal , Johnny Israeli , Bryan Catanzaro

Variant calling is a fundamental task in genomic research, essential for detecting genetic variations such as single nucleotide polymorphisms (SNPs) and insertions or deletions (indels). This paper presents an enhancement to DeepChem, a…

Quantitative Methods · Quantitative Biology 2025-07-29 Ankita Vaishnobi Bisoi , Shreyas V , Jose Siguenza , Bharath Ramsundar

Motivation: Whole-genome high-coverage sequencing has been widely used for personal and cancer genomics as well as in various research areas. However, in the lack of an unbiased whole-genome truth set, the global error rate of variant calls…

Genomics · Quantitative Biology 2018-07-27 Heng Li

Cancer and its subtypes constitute approximately 30% of all causes of death globally and display a wide range of heterogeneity in terms of clinical and molecular responses to therapy. Molecular subtyping has enabled the use of precision…

Quantitative Methods · Quantitative Biology 2024-07-11 Anwar Khan , Boreom Lee

As a foundational technology for intelligent human-computer interaction, voice conversion (VC) seeks to transform speech from any source timbre into any target timbre. Traditional voice conversion methods based on Generative Adversarial…

Sound · Computer Science 2025-06-11 Wenhan Yao , Fen Xiao , Xiarun Chen , Jia Liu , YongQiang He , Weiping Wen

With the development of gene sequencing technology, an explosive growth of gene data has been witnessed. And the storage of gene data has become an important issue. Traditional gene data compression methods rely on general software like…

Machine Learning · Computer Science 2023-02-01 Zhanbei Cui , Yu Liao , Tongda Xu , Yan Wang

Accurate prediction of cancer type and primary tumor site is critical for effective diagnosis, personalized treatment, and improved outcomes. Traditional models struggle with the complexity of genomic and clinical data, but quantum…

Quantitative Methods · Quantitative Biology 2025-06-30 Don Roosan , Rubayat Khan , Md Rahatul Ashakin , Tiffany Khou , Saif Nirzhor , Mohammad Rifat Haider

Blind face restoration is a highly ill-posed problem that often requires auxiliary guidance to 1) improve the mapping from degraded inputs to desired outputs, or 2) complement high-quality details lost in the inputs. In this paper, we…

Computer Vision and Pattern Recognition · Computer Science 2022-11-02 Shangchen Zhou , Kelvin C. K. Chan , Chongyi Li , Chen Change Loy

Pretrained transformer models have demonstrated remarkable performance across various natural language processing tasks. These models leverage the attention mechanism to capture long- and short-range dependencies in the sequence. However,…

Computation and Language · Computer Science 2023-10-20 Qingru Zhang , Dhananjay Ram , Cole Hawkins , Sheng Zha , Tuo Zhao

As the global need for large-scale data storage is rising exponentially, existing storage technologies are approaching their theoretical and functional limits in terms of density and energy consumption, making DNA based storage a potential…

Emerging Technologies · Computer Science 2021-10-12 Yotam Nahum , Eyar Ben-Tolila , Leon Anavy

With the success of language pretraining, it is highly desirable to develop more efficient architectures of good scalability that can exploit the abundant unlabeled data at a lower cost. To improve the efficiency, we examine the…

Machine Learning · Computer Science 2020-06-08 Zihang Dai , Guokun Lai , Yiming Yang , Quoc V. Le

Genetic variants (GVs) are defined as differences in the DNA sequences among individuals and play a crucial role in diagnosing and treating genetic diseases. The rapid decrease in next generation sequencing cost has led to an exponential…

Machine Learning · Computer Science 2024-12-06 Zehui Li , Vallijah Subasri , Guy-Bart Stan , Yiren Zhao , Bo Wang

While Transformer models have achieved remarkable success in various domains, the effectiveness of information propagation through deep networks remains a critical challenge. Standard hidden state residuals often fail to adequately preserve…

Computation and Language · Computer Science 2025-06-10 Zhanchao Zhou , Tianyi Wu , Zhiyun Jiang , Fares Obeid , Zhenzhong Lan

Depth completion aims to predict dense depth maps with sparse depth measurements from a depth sensor. Currently, Convolutional Neural Network (CNN) based models are the most popular methods applied to depth completion tasks. However,…

Computer Vision and Pattern Recognition · Computer Science 2024-09-13 Jian Qian , Miao Sun , Ashley Lee , Jie Li , Shenglong Zhuo , Patrick Yin Chiang

In recent years, widespread attention has been drawn to the challenge of correcting insertion, deletion, and substitution (IDS) errors in DNA-based data storage. Among various IDS-correcting codes, Varshamov-Tenengolts (VT) codes,…

Machine Learning · Computer Science 2026-04-02 Yali Wei , Alan J. X. Guo , Zihui Yan , Yufan Dai , Wenjia Fan

Image Representation learning via input reconstruction is a common technique in machine learning for generating representations that can be effectively utilized by arbitrary downstream tasks. A well-established approach is using…

Neural and Evolutionary Computing · Computer Science 2025-06-10 Raoof HojatJalali , Edmondo Trentin

Recently, Transformer-based encoder-decoder models have demonstrated strong performance in multilingual speech recognition. However, the decoder's autoregressive nature and large size introduce significant bottlenecks during inference.…

Audio and Speech Processing · Electrical Eng. & Systems 2025-08-28 Yunkyu Lim , Jihwan Park , Hyung Yong Kim , Hanbin Lee , Byeong-Yeol Kim

Depth completion, which aims to generate high-quality dense depth maps from sparse depth maps, has attracted increasing attention in recent years. Previous work usually employs RGB images as guidance, and introduces iterative spatial…

Computer Vision and Pattern Recognition · Computer Science 2023-08-04 Xinglong Sun , Jean Ponce , Yu-Xiong Wang

Recently, Vision Transformers (ViTs) have achieved unprecedented effectiveness in the general domain of image classification. Nonetheless, these models remain underexplored in the field of deepfake detection, given their lower performance…

Computer Vision and Pattern Recognition · Computer Science 2024-11-26 Dat Nguyen , Marcella Astrid , Enjie Ghorbel , Djamila Aouada

Transformer-based models have achieved remarkable success in natural language and vision tasks, but their application to gene expression analysis remains limited due to data sparsity, high dimensionality, and missing values. We present…

Machine Learning · Computer Science 2025-04-15 Shuai Jiang , Saeed Hassanpour
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