Search Results - "Krusche, Peter"
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Strelka2: fast and accurate calling of germline and somatic variants
Published in Nature methods (01-08-2018)“…We describe Strelka2 ( https://github.com/Illumina/strelka ), an open-source small-variant-calling method for research and clinical germline and somatic…”
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A reference data set of 5.4 million phased human variants validated by genetic inheritance from sequencing a three-generation 17-member pedigree
Published in Genome research (01-01-2017)“…Improvement of variant calling in next-generation sequence data requires a comprehensive, genome-wide catalog of high-confidence variants called in a set of…”
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Paragraph: a graph-based structural variant genotyper for short-read sequence data
Published in Genome Biology (19-12-2019)“…Accurate detection and genotyping of structural variations (SVs) from short-read data is a long-standing area of development in genomics research and clinical…”
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ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regions
Published in Bioinformatics (01-11-2019)“…Abstract Summary We describe a novel computational method for genotyping repeats using sequence graphs. This method addresses the long-standing need to…”
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Phase locking and multiple oscillating attractors for the coupled mammalian clock and cell cycle
Published in Proceedings of the National Academy of Sciences - PNAS (08-07-2014)“…Daily synchronous rhythms of cell division at the tissue or organism level are observed in many species and suggest that the circadian clock and cell cycle…”
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Cyclin-dependent kinase inhibitor p20 controls circadian cell-cycle timing
Published in Proceedings of the National Academy of Sciences - PNAS (23-04-2013)“…Specific stages of the cell cycle are often restricted to particular times of day because of regulation by the circadian clock. In zebrafish, both mitosis (M…”
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Conserved Noncoding Sequences Highlight Shared Components of Regulatory Networks in Dicotyledonous Plants
Published in The Plant cell (01-10-2012)“…Conserved noncoding sequences (CNSs) in DNA are reliable pointers to regulatory elements controlling gene expression. Using a comparative genomics approach…”
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Advancing data science in drug development through an innovative computational framework for data sharing and statistical analysis
Published in BMC medical research methodology (14-11-2021)“…Abstract Background Novartis and the University of Oxford’s Big Data Institute (BDI) have established a research alliance with the aim to improve health care…”
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Best practices for benchmarking germline small-variant calls in human genomes
Published in Nature biotechnology (01-05-2019)“…Standardized benchmarking approaches are required to assess the accuracy of variants called from sequence data. Although variant-calling tools and the metrics…”
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Methodology for Good Machine Learning with Multi‐Omics Data
Published in Clinical pharmacology and therapeutics (01-04-2024)“…In 2020, Novartis Pharmaceuticals Corporation and the U.S. Food and Drug Administration (FDA) started a 4‐year scientific collaboration to approach complex new…”
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Genomic plasticity and rapid host switching can promote the evolution of generalism: a case study in the zoonotic pathogen Campylobacter
Published in Scientific reports (29-08-2017)“…Horizontal gene transfer accelerates bacterial adaptation to novel environments, allowing selection to act on genes that have evolved in multiple genetic…”
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Analysis of 5' gene regions reveals extraordinary conservation of novel non-coding sequences in a wide range of animals
Published in BMC evolutionary biology (19-10-2015)“…Phylogenetic footprinting is a comparative method based on the principle that functional sequence elements will acquire fewer mutations over time than…”
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Evolutionary analysis of regulatory sequences (EARS) in plants
Published in The Plant journal : for cell and molecular biology (01-10-2010)“…Identification of regulatory sequences within non-coding regions of DNA is an essential step towards elucidation of gene networks. This approach constitutes a…”
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Author Correction: Best practices for benchmarking germline small-variant calls in human genomes
Published in Nature biotechnology (01-05-2019)“…In the version of this article initially published online, two pairs of headings were switched with each other in Table 4: “Recall (PCR free)” was switched…”
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Using Large Language Models to Generate Clinical Trial Tables and Figures
Published 18-09-2024“…Tables, figures, and listings (TFLs) are essential tools for summarizing clinical trial data. Creation of TFLs for reporting activities is often a…”
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TorchSurv: A Lightweight Package for Deep Survival Analysis
Published 16-04-2024“…TorchSurv is a Python package that serves as a companion tool to perform deep survival modeling within the PyTorch environment. Unlike existing libraries that…”
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Computing alignment plots efficiently
Published 10-09-2009“…Dot plots are a standard method for local comparison of biological sequences. In a dot plot, a substring to substring distance is computed for all pairs of…”
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