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Reliability of genomic variants across different next-generation sequencing platforms and bioinformatic processing pipelines.
Weißbach, Stephan; Sys, Stanislav; Hewel, Charlotte; Todorov, Hristo; Schweiger, Susann; Winter, Jennifer; Pfenninger, Markus; Torkamani, Ali; Evans, Doug; Burger, Joachim; Everschor-Sitte, Karin; May-Simera, Helen Louise; Gerber, Susanne.
Affiliation
  • Weißbach S; Institute of Human Genetics, University Medical Center of the Johannes Gutenberg-University Mainz, Mainz, Germany.
  • Sys S; Institute of Developmental Biology and Neurobiology, Johannes Gutenberg-University Mainz, Mainz, Germany.
  • Hewel C; Institute of Human Genetics, University Medical Center of the Johannes Gutenberg-University Mainz, Mainz, Germany.
  • Todorov H; Institute of Human Genetics, University Medical Center of the Johannes Gutenberg-University Mainz, Mainz, Germany.
  • Schweiger S; Institute of Human Genetics, University Medical Center of the Johannes Gutenberg-University Mainz, Mainz, Germany.
  • Winter J; Institute of Human Genetics, University Medical Center of the Johannes Gutenberg-University Mainz, Mainz, Germany.
  • Pfenninger M; Leibniz Institute for Resilience Research, Mainz, Germany.
  • Torkamani A; Institute of Human Genetics, University Medical Center of the Johannes Gutenberg-University Mainz, Mainz, Germany.
  • Evans D; Leibniz Institute for Resilience Research, Mainz, Germany.
  • Burger J; Department of Molecular Ecology, Senckenberg Biodiversity and Climate Research Centre, Senckenberganlage 25, 60325, Frankfurt am Main, Germany.
  • Everschor-Sitte K; Institute for Molecular and Organismic Evolution, Johannes Gutenberg-University Mainz, Johann-Joachim-Becher-Weg 7, 55128, Mainz, Germany.
  • May-Simera HL; LOEWE Centre for Translational Biodiversity Genomics, Senckenberg Biodiversity, and Climate Research Centre, Senckenberganlage 25, 60325, Frankfurt am Main, Germany.
  • Gerber S; Department of Integrative Structural and Computational Biology, Scripps Research Translational Institute, California Campus, San Diego, USA.
BMC Genomics ; 22(1): 62, 2021 Jan 19.
Article in En | MEDLINE | ID: mdl-33468057
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Computational Biology / High-Throughput Nucleotide Sequencing Type of study: Guideline / Observational_studies / Prevalence_studies / Risk_factors_studies Limits: Humans Language: En Journal: BMC Genomics Journal subject: GENETICA Year: 2021 Type: Article Affiliation country: Germany
Fulltext
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Computational Biology / High-Throughput Nucleotide Sequencing Type of study: Guideline / Observational_studies / Prevalence_studies / Risk_factors_studies Limits: Humans Language: En Journal: BMC Genomics Journal subject: GENETICA Year: 2021 Type: Article Affiliation country: Germany