English
Related papers

Related papers: mendelFix: a Perl script for checking Mendelian er…

200 papers

We present a model-agnostic post-processing scheme to improve the boundary quality for the segmentation result that is generated by any existing segmentation model. Motivated by the empirical observation that the label predictions of…

Computer Vision and Pattern Recognition · Computer Science 2020-08-28 Yuhui Yuan , Jingyi Xie , Xilin Chen , Jingdong Wang

Although neural networks have been applied to several systems in recent years, they still cannot be used in safety-critical systems due to the lack of efficient techniques to certify their robustness. A number of techniques based on convex…

Machine Learning · Computer Science 2021-09-28 Ziye Ma , Somayeh Sojoudi

In a critical software system, the testers have to spend an enormous amount of time and effort to maintain the software due to the continuous occurrence of defects. Among such defects, some severe defects may adversely affect the software.…

Software Engineering · Computer Science 2022-10-11 Umamaheswara Sharma B , Ravichandra Sadam

Component-Based Software Engineering (CBSE) is a methodology that assembles pre-existing, re-usable software components into new applications, which is particularly relevant for fast moving, data-intensive fields such as bioinformatics.…

Mathematical Software · Computer Science 2024-06-18 Christos Argyropoulos

A ternary message passing (TMP) decoding algorithm for low-density parity-check codes is developed. All messages exchanged between variable and check nodes have a ternary alphabet, and the variable nodes exploit soft information from the…

Information Theory · Computer Science 2018-10-12 Emna Ben Yacoub , Fabian Steiner , Balazs Matuz , Gianluigi Liva

Mendelian randomization is the use of genetic variants to assess the existence of a causal relationship between a risk factor and an outcome of interest. Here, we focus on two-sample summary-data Mendelian randomization analyses with many…

Quantitative Methods · Quantitative Biology 2022-09-16 Apostolos Gkatzionis , Stephen Burgess , Paul J. Newcombe

Motivation: Most existing methods for DNA sequence analysis rely on accurate sequences or genotypes. However, in applications of the next-generation sequencing (NGS), accurate genotypes may not be easily obtained (e.g. multi-sample…

Genomics · Quantitative Biology 2013-03-19 Heng Li

Genome-wide association studies generate very large datasets that require scalable analysis algorithms. In this report we describe the GEDI software package, which implements efficient algorithms for performing several common tasks in the…

Data Structures and Algorithms · Computer Science 2016-09-08 Justin Kennedy , Ion I. Mandoiu , Bogdan Pasaniuc

Mendelian randomization uses genetic variants to make causal inferences about the effect of a risk factor on an outcome. With fine-mapped genetic data, there may be hundreds of genetic variants in a single gene region any of which could be…

Methodology · Statistics 2017-07-10 Stephen Burgess , Verena Zuber , Elsa Valdes-Marquez , Benjamin B Sun , Jemma C Hopewell

Neural networks are central to many emerging technologies, but verifying their correctness remains a major challenge. It is known that network outputs can be sensitive and fragile to even small input perturbations, thereby increasing the…

Machine Learning · Computer Science 2024-01-09 Anton Xue , Lars Lindemann , Rajeev Alur

DNA methylation is an intensely studied epigenetic mark implicated in many biological processes of direct clinical relevance. While sequencing based technologies are increasingly allowing high resolution measurements of DNA methylation,…

Quantitative Methods · Quantitative Biology 2014-10-27 Tom Mayo , Gabriele Schweikert , Guido Sanguinetti

Labeling of DNA molecules is a fundamental technique for DNA visualization and analysis. This process was mathematically modeled in [1], where the received sequence indicates the positions of the used labels. In this work, we develop error…

Information Theory · Computer Science 2025-11-04 Dganit Hanania , Eitan Yaakobi

In the past decade, the increased availability of genome-wide association studies summary data has popularized Mendelian Randomization (MR) for conducting causal inference. MR analyses, incorporating genetic variants as instrumental…

Methodology · Statistics 2025-08-26 Zhongming Xie , Wanheng Zhang , Jingshen Wang , Chong Wu

Mendelian randomization (MR) is a method of exploiting genetic variation to unbiasedly estimate a causal effect in presence of unmeasured confounding. MR is being widely used in epidemiology and other related areas of population science. In…

Applications · Statistics 2019-01-03 Qingyuan Zhao , Jingshu Wang , Gibran Hemani , Jack Bowden , Dylan S. Small

We discuss a range of miscodes found in probabilistic genotyping (PG) software and from other industries that have been reported in the literature and have been used to inform PG admissibility hearings. Every instance of the discovery of a…

Software Engineering · Computer Science 2022-05-23 John Buckleton , Jo-Anne Bright , Kevin Cheng , Duncan Taylor

This paper describes AutoFix, an automatic debugging technique that can fix faults in general-purpose software. To provide high-quality fix suggestions and to enable automation of the whole debugging process, AutoFix relies on the presence…

Software Engineering · Computer Science 2014-05-22 Yu Pei , Carlo A. Furia , Martin Nordio , Yi Wei , Bertrand Meyer , Andreas Zeller

Function-level code generation leverages foundation Large Language Models (LLMs) to automatically produce source code with expected functionality. It has been widely investigated and applied in intelligent programming assistants, such as…

Software Engineering · Computer Science 2025-01-22 Hao Wen , Yueheng Zhu , Chao Liu , Xiaoxue Ren , Weiwei Du , Meng Yan

In the single-positive multi-label (SPML) setting, each image in a dataset is labeled with the presence of a single class, while the true presence of other classes remains unknown. The challenge is to narrow the performance gap between this…

Computer Vision and Pattern Recognition · Computer Science 2025-11-04 Aaron Sun , Subhransu Maji , Grant Van Horn

Multi-domain detection of the machine-generated code snippets in various programming languages is a challenging task. SemEval-2026 Task~13 copes with this challenge in various angles, as a binary detection problem as well as attribution of…

Machine Learning · Computer Science 2026-04-24 Adam Skurla , Dominik Macko , Jakub Simko

Pedigree data contain family history information that is used to analyze hereditary diseases. These clinical data sets may contain duplicate records due to the same family visiting a clinic multiple times or a clinician entering multiple…

Applications · Statistics 2021-08-20 Theodore Huang , Matthew Ploenzke , Danielle Braun