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Ophthalmology, ISSN 0161-6420, 09/2018, Volume 125, Issue 9, pp. 1433 - 1443
Journal Article
Applied & Translational Genomics, ISSN 2212-0661, 09/2016, Volume 10, Issue C, pp. 2 - 9
DNA sequencing continues to evolve quickly even after > 30 years. Many new platforms suddenly appeared and former established systems have vanished in almost... 
Validation | Guideline | Data quality | Next-generation sequencing | Standardization | Quality management
Journal Article
2016 15th IEEE International Conference on Machine Learning and Applications (ICMLA), 12/2016, pp. 498 - 501
Development of software tools to analyze next-generation sequencing (NGS) data is one of the urgent tasks in bioinformatics field. Currently, lots of... 
Computers | Sequential analysis | Pipelines | Genomics | Next generation sequence (NGS); pipeline; genome analysis toolkit (GATK) | Software | Bioinformatics | Next generation networking
Conference Proceeding
PeerJ, ISSN 2167-8359, 2014, Volume 2014, Issue 1, p. e600
The Genome Analysis Toolkit (GATK) is commonly used for variant calling of single nucleotide polymorphisms (SNPs) and small insertions and deletions (indels)... 
Exome | GATK | Small indel | SNP | Targeted sequencing | Variant calling | VarScan | GENOTYPE | MULTIDISCIPLINARY SCIENCES | TOOLKIT | CANCER | DISCOVERY | GENETIC-VARIATION | FRAMEWORK | MUTATIONS | DNA-SEQUENCING DATA | GENOME ANALYSIS | Single nucleotide polymorphisms | Chromosomes | Analysis | Genomics | Consortia | Studies | Algorithms | Statistical analysis | Quality | Genomes | Single-nucleotide polymorphism | Mutation | Bioinformatics
Journal Article
BMC Genomics, ISSN 1471-2164, 01/2014, Volume 15, Issue 1, pp. 16 - 16
Journal Article
Journal of Animal Science and Biotechnology, ISSN 1674-9782, 06/2019, Volume 10, Issue 1, pp. 44 - 6
Journal Article
G3: Genes, Genomes, Genetics, ISSN 2160-1836, 04/2015, Volume 5, Issue 4, pp. 655 - 665
Journal Article
FRONTIERS IN GENETICS, ISSN 1664-8021, 08/2019, Volume 10, p. 736
As reliable, efficient genome sequencing becomes ubiquitous, the need for similarly reliable and efficient variant calling becomes increasingly important. The... 
GATK | variant calling | DNASeq | benchmarking | Sentieon | GENETICS & HEREDITY | Genomics | Analysis
Journal Article
Journal Article
Journal Article
BMC research notes, ISSN 1756-0500, 2014, Volume 7, Issue 1, pp. 864 - 864
Insertions/deletions (indels) are the second most common type of genomic variant and the most common type of structural variant. Identification of indels in... 
GATK | Validation | Pindel | Indels | Next generation sequencing | Concordance | Mutagenesis, Insertional | Algorithms | Sequence Analysis - methods | Gene Deletion | Humans | Models | Research | Comparative analysis | Genes | Studies | Data analysis | Genomes | Genomics
Journal Article