Results 251 to 260 of about 37,179 (261)

GenomeDK Release 1 GATK-Indels calls

2015
This is an aggregate vcf of GATK Indels calls from 10 trios sequenced to high depth from the first phase Danish Pangenome ...
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Abstract 3580: GATK CNV: copy-number variation discovery from coverage data

Cancer Research, 2017
Abstract We propose and evaluate a novel algorithm for inferring germline and somatic copy number variation from whole exome sequencing (WES) and whole genome sequencing (WGS) data. Starting with the depth of aligned short reads from a cohort of samples, we use a Bayesian model for learning sequencing bias and simultaneously detecting ...
Mehrtash Babadi, David I. Benjamin, Samuel K. Lee, Andrey Smirnov, Aaron Chevalier, Lee Lichtenstein, Valentin Ruano Rubio   +6 more
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Variant Calling from RNA-seq Data Using the GATK Joint Genotyping Workflow

2012
The Genome Analysis Toolkit (GATK) developed at the Broad Institute provides state-of-the-art pipelines for germline and somatic variant discovery and genotyping. Unfortunately, the fully validated GATK pipeline for calling variant on RNAseq data is a Per-sample workflow that does not include the recent improvements seen in modern workflows, especially
Jean-Simon, Brouard, Nathalie, Bissonnette   +1 more
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Variant Calling from RNA-seq Data Using the GATK Joint Genotyping Workflow

Methods in Molecular Biology, 2022
Nathalie Bissonnette
exaly  

New Association Aims to Advance GATK for Precision Medicine in China

Clinical OMICs, 2017
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Need for speed in accurate whole-genome data analysis: GENALICE MAP challenges BWA/GATK more than PEMapper/PECaller and Isaac

Proceedings of the National Academy of Sciences of the United States of America, 2017
Gabor Matyas, Irene Keller, Nicolo Dubacher   +2 more
exaly  

Beagle and GATK as the two different software for haplotype phasing for NGS data [PDF]

, 2014
Magdalena Frąszczak, Magda Mielczarek, Joanna Szyda, Giulietta Minozzi, Nicolazzi, T, Diaz, C, Rossoni, A, Egger-Danner, C, Woolliams, J, Varona, L, John L. Williams, Schwarzenbacher, H, Ferrandi, C, Solberg, T, Seefried, F, Vicario, D, Giannico, R   +16 more
openaire  

Review: Chronicles of Willamette: The Pioneer University of the West, by Robert M. Gatke

Pacific Historical Review, 1943
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A framework for hyperparameter optimization of genomic cloud pipelines: improving the performance of GATK VETS variant filtration

2024 IEEE International Conference on Bioinformatics and Biomedicine (BIBM)
Wanying Dou, Samuel K. Lee, Kiran V. Garimella   +2 more
openaire   +1 more source

Discovering, Genotyping, and Annotating Structural Variants with the Genome Analysis Toolkit (GATK)

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