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Related papers: Twelve years of SAMtools and BCFtools

200 papers

Since the advent of next-generation sequencing in the early 2000s, the volume of bioinformatics software tools and databases has exploded and continues to grow rapidly. Documenting this evolution on a global and time-dependent scale is a…

With high-throughput biotechnologies generating unprecedented quantities of data, researchers are faced with the challenge of locating and comparing an exponentially growing number of programs and websites dedicated to computational…

Open source bioinformatics tools running under MS Windows are rare to find, and those running under Windows HPC cluster are almost non-existing. This is despite the fact that the Windows is the most popular operating system used among life…

Mathematical Software · Computer Science 2009-05-06 Mohamed Abouelhoda , Hisham Mohamed

Summary: With the rapid development of long-read sequencing technologies, the era of individual complete genomes is approaching. We have developed wgatools, a cross-platform, ultrafast toolkit that supports a range of whole genome alignment…

Genomics · Quantitative Biology 2025-04-01 Wenjie Wei , Songtao Gui , Jian Yang , Erik Garrison , Jianbing Yan , Hai-Jun Liu

Over the past decade, the Python-based Simulations of Chemistry Framework (PySCF) has developed into a widely used open-source platform for electronic structure theory and quantum chemical method development. This article reviews the major…

Chemical Physics · Physics 2026-04-09 Qiming Sun , Matthew R Hermes , Xiaojie Wu , Huanchen Zhai , Xing Zhang , Abdelrahman M. Ahmed , Juan José Aucar , Oliver J. Backhouse , Samragni Banerjee , Peng Bao , Nikolay A. Bogdanov , Kyle Bystrom , Frédéric Chapoton , Ning-Yuan Chen , Ivan Yu. Chernyshov , Helen S. Clifford , Sander Cohen-Janes , Zhi-Hao Cui , Yann D. Damour , Nike Dattani , Linus Bjarne Dittmer , Sebastian Ehlert , Janus Juul Eriksen , Francesco A. Evangelista , Simon A. Ewing , Ardavan Farahvash , Kevin Focke , Yang Gao , Kevin E. Gasperich , Nathan Gillispie , Jonas Greiner , Matthew R. Hennefarth , Jan Hermann , Christopher Hillenbrand , Joonatan Huhtasalo , Basil Ibrahim , Bhavnesh Jangid , Alireza Nejati Javaremi , Andrew J. Jenkins , Yu Jin , Daniel S. King , Derk Pieter Kooi , Jo S. Kurian , Henrik R. Larsson , Bryan Tak Gwong Lau , Seunghoon Lee , Susi Lehtola , Chenghan Li , Hao Li , Jiachen Li , Rui Li , Shuhang Li , Aleksandr O. Lykhin , Ankit Mahajan , Nastasia Mauger , Pablo del Mazo-Sevillano , Jonathan Moussa , Kousuke Nakano , Verena A. Neufeld , Linqing Peng , Hung Q. Pham , Peter Pinski , Pavel Pokhilko , Zhichen Pu , Yubing Qian , Stephen Jon Quiton , Wanja T. Schulze , Thais R. Scott , Aniruddha Seal , James D. Serna , James E. T. Smith , Kori E. Smyser , Terrence Stahl , Chong Sun , Kevin J. Sung , Egor Trushin , Shiv Upadhyay , Ethan A. Vo , Thijs Vogels , Shirong Wang , Tai Wang , Xiao Wang , Xubo Wang , Yuanheng Wang , Mark Williamson , Junjie Yang , Hong-Zhou Ye , Chia-Nan Yeh , Haiyang Yu , Jincheng Yu , Victor Wen-zhe Yu , Chaoqun Zhang , Dayou Zhang , Yichi Zhang , Zijun Zhao , Zehao Zhou , Andrew J. Zhu , Tianyu Zhu , Timothy C. Berkelbach , Laura Gagliardi , Sandeep Sharma , Alexander Sokolov , Garnet Kin-Lic Chan

Summary: HTSeq 2.0 provides a more extensive API including a new representation for sparse genomic data, enhancements in htseq-count to suit single cell omics, a new script for data using cell and molecular barcodes, improved documentation,…

Genomics · Quantitative Biology 2021-12-03 Givanna H Putri , Simon Anders , Paul Theodor Pyl , John E Pimanda , Fabio Zanini

Summary: Biospectrogam is an open-source software for the spectral analysis of DNA and protein sequences. The software can fetch (from NCBI server), import and manage biological data. One can analyze the data using Digital Signal Processing…

Quantitative Methods · Quantitative Biology 2012-10-05 Naman Turakhia , Nilay Chheda , Manish K. Gupta , Ruchin Shah , Jigar Raisinghani

Computational models have great potential to accelerate bioscience, bioengineering, and medicine. However, it remains challenging to reproduce and reuse simulations, in part, because the numerous formats and methods for simulating various…

The reproducibility of computational pipelines is an expectation in biomedical science, particularly in critical domains like human health. In this context, reporting next generation genome sequencing methods used in precision medicine…

Computational Engineering, Finance, and Science · Computer Science 2024-12-11 Meznah Aloqalaa , Stian Soiland-Reyes , Carole Goble

Motivation: Accurate detection of sequence similarity and homologous recombination are essential parts of many evolutionary analyses. Results: We have developed SimPlot++, an open-source multiplatform application implemented in Python,…

Quantitative Methods · Quantitative Biology 2022-04-14 Stéphane Samson , Étienne Lord , Vladimir Makarenkov

Any cutting-edge scientific research project requires a myriad of computational tools for data generation, management, analysis and visualization. Python is a flexible and extensible scientific programming platform that offered the perfect…

Quantitative Methods · Quantitative Biology 2008-03-14 Julius B. Lucks

Developers gain productivity by reusing readily available Free and Open Source Software (FOSS) components. Such practices also bring some difficulties, such as managing licensing, components and related security. One approach to handle…

Software Engineering · Computer Science 2025-03-20 Luıs Soeiro , Thomas Robert , Stefano Zacchiroli

Despite the success of large language models (LLMs) on general-purpose tasks, their performance in highly specialized domains such as biomedicine remains unsatisfactory. A key limitation is the inability of LLMs to effectively leverage…

Computation and Language · Computer Science 2026-05-08 Xin Gao , Ruiyi Zhang , Meixi Du , Peijia Qin , Pengtao Xie

Just like the scientific data they generate, simulation workflows for research should be findable, accessible, interoperable, and reusable (FAIR). However, while significant progress has been made towards FAIR data, the majority of science…

Digital Libraries · Computer Science 2022-05-04 Martin Hunt , Steven Clark , Daniel Mejia , Saaketh Desai , Alejandro Strachan

Motivation: In this paper we present the latest release of EBIC, a next-generation biclustering algorithm for mining genetic data. The major contribution of this paper is adding support for big data, making it possible to efficiently run…

Genomics · Quantitative Biology 2024-09-05 Patryk Orzechowski , Jason H. Moore

Motivation: Modern genomics laboratories generate massive volumes of sequencing data, often resulting in significant storage costs. Genomics storage consists of duplicate files, temporary processing files, and redundant intermediate data.…

Genomics · Quantitative Biology 2025-11-27 Margot Celerie , Andrew Oldfield , William Ritchie

PySEMTools is a Python-based library for post-processing simulation data produced with high-order hexahedral elements in the context of the spectral element method in computational fluid dynamics. It aims to minimize intermediate steps…

Computational Physics · Physics 2025-04-18 Adalberto Perez , Siavash Toosi , Tim Felle Olsen , Stefano Markidis , Philipp Schlatter

Programming is ubiquitous in applied biostatistics; adopting software engineering skills will help biostatisticians do a better job. To explain this, we start by highlighting key challenges for software development and application in…

Motivation: Quality control of genomic data is an essential but complicated multi-step procedure, often requiring separate installation and expert familiarity with a combination of disparate bioinformatics tools. Results: To provide an…

Genomics · Quantitative Biology 2021-05-06 Christina Vasilopoulou , Benjamin Wingfield , Andrew P. Morris , William Duddy

BCI algorithm development has long been hampered by two major issues: small sample sets and a lack of reproducibility. We offer a solution to both of these problems via a software suite that streamlines both the issues of finding and…

Human-Computer Interaction · Computer Science 2018-09-11 Vinay Jayaram , Alexandre Barachant
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