Selected article for: "human genome and reference human genome"
Author: Hernandez, Nicholas; Melki, Isabelle; Jing, Huie; Habib, Tanwir; Huang, Susie S.Y.; Danielson, Jeffrey; Kula, Tomasz; Drutman, Scott; Belkaya, Serkan; Rattina, Vimel; Lorenzo-Diaz, Lazaro; Boulai, Anais; Rose, Yoann; Kitabayashi, Naoki; Rodero, Mathieu P.; Dumaine, Cecile; Blanche, Stéphane; Lebras, Marie-Noëlle; Leung, Man Chun; Mathew, Lisa Sara; Boisson, Bertrand; Zhang, Shen-Ying; Boisson-Dupuis, Stephanie; Giliani, Silvia; Chaussabel, Damien; Notarangelo, Luigi D.; Elledge, Stephen J.; Ciancanelli, Michael J.; Abel, Laurent; Zhang, Qian; Marr, Nico; Crow, Yanick J.; Su, Helen C.; Casanova, Jean-Laurent
Title: Life-threatening influenza pneumonitis in a child with inherited IRF9 deficiency
  • Document date: 2018_10_1
    • ID: jqv0lyfx_32
    Snippet: Exome capture was performed with the SureSelect Human All Exon 50 Mb kit (Agilent Technologies). Paired-end sequencing was performed on a HiSeq 2000 (Illumina), generating 100base reads. We aligned the sequences with the GRCh39 reference build of the human genome using the BWA aligner . Downstream processing and variant calling were performed with the Genome Analysis Toolkit, SAMtools, and Picard McKenna et al., 2010) . Substitution and InDel cal.....
    Document: Exome capture was performed with the SureSelect Human All Exon 50 Mb kit (Agilent Technologies). Paired-end sequencing was performed on a HiSeq 2000 (Illumina), generating 100base reads. We aligned the sequences with the GRCh39 reference build of the human genome using the BWA aligner . Downstream processing and variant calling were performed with the Genome Analysis Toolkit, SAMtools, and Picard McKenna et al., 2010) . Substitution and InDel calls were made with the GATK Unified Genotyper. All variants were annotated using an annotation software system that was developed in-house (Ng and Henikoff, 2001; Adzhubei et al., 2010; Kircher et al., 2014) .

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