casava mapping, alignment, and variant calling software (Illumina Inc)
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Illumina Inc
casava mapping, alignment, and variant calling software
Casava Mapping, Alignment, And Variant Calling Software, supplied by Illumina Inc, used in various techniques. Bioz Stars score: 90/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
https://www.bioz.com/product/map+aligner+software/variant+studio+software/pmc05423809-111-16-3
Average 90 stars, based on 1 article reviews
Casava Mapping, Alignment, And Variant Calling Software, supplied by Illumina Inc, used in various techniques. Bioz Stars score: 90/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
https://www.bioz.com/product/map+aligner+software/variant+studio+software/pmc05423809-111-16-3
Average 90 stars, based on 1 article reviews
casava mapping, alignment, and variant calling software - by Bioz Stars,
2026-09
90/100 stars
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Variant Assay:Article Title: Biallelic variants in ZNF526 cause a severe neurodevelopmental disorder with microcephaly, bilateral cataract, epilepsy and simplified gyration. Article Snippet: © Author(s) (or their employer(s)) 2022.. No commercial reuse.. See rights and permissions. Article Title: Identification of rare variants in candidate genes associated with monogenic diabetes in polish mody-x patients Article Snippet: Alignments and variant calling were performed using BWA Enrichment v2.1 BaseSpace application (Illumina, San Diego, USA). .. Variant annotations and filtering were carried out in Article Title: The Role of Next-Generation Sequencing in the Management of Patients with Suspected Non-Ischemic Cardiomyopathy after Syncope or Termination of Sudden Arrhythmic Death. Article Snippet: Data analysis was performed using the on-instrument MiSeq Reporter software 2.5.42.5 according to the BWA Enrichment workflow. .. Article Title: Postmortem Identification of Genetic Variations Associated with Sudden Unexpected Death in Young People. Article Snippet: .. 55 dam / illumina-marketing / documents / products / gene _ lists / gene_list_trusight_one.zip) (Tables I, II).13-15) Variants were filtered using Article Title: Mutational Spectrum and Genotype-phenotype Correlations in Neurofibromatosis Type 1 Patients from North Macedonia: Identification of Ten Novel NF1 Pathogenic Variants Article Snippet: The raw sequence data were aligned against the reference genome as specified in the manifest file using MiSeq Reporter software (v2.6.3). .. The VCF output file was used for variant calling and filtering with Article Title: PIK3CA and PIK3R1 tumor mutational landscape in a pan-cancer patient cohort and its association with pathway activation and treatment efficacy. Article Snippet: .. Variant Call Format (VCF) files were annotated with Article Title: Pathogenicity assessment of genetic variants identified in patients with severe hypertriglyceridemia: novel cases of Familial Chylomicronemia Syndrome from the Dyslipidemia Registry of the Spanish Atherosclerosis Society. Article Snippet: Mj Ariza, I. Coca-Prieto, José Rioja, Ovidio Muñiz-Grijalvo, Daniel Zambón-Rados, Agustín Blanco-Echavarría, Teresa Arrobas-Velilla, Javier Delgado-Lista, David LeónJiménez, Marta Casañas-Martínez, Luis A. Álvarez-Sala-Walther, Liliana GutiérrezCarrasquilla, Justo Sánchez-Gil, Mónica Domènech, Andrés González-Jiménez, Ma José Benítez-Toledo, Javier Espíldora-Hernández, Emilio Ortega-Martínez de Victoria, Ma Sánchez-Chaparro, Pedro Valdivielso Software:Article Title: Biallelic variants in ZNF526 cause a severe neurodevelopmental disorder with microcephaly, bilateral cataract, epilepsy and simplified gyration. Article Snippet: © Author(s) (or their employer(s)) 2022.. No commercial reuse.. See rights and permissions. Article Title: Identification of rare variants in candidate genes associated with monogenic diabetes in polish mody-x patients Article Snippet: Alignments and variant calling were performed using BWA Enrichment v2.1 BaseSpace application (Illumina, San Diego, USA). .. Variant annotations and filtering were carried out in Article Title: The Role of Next-Generation Sequencing in the Management of Patients with Suspected Non-Ischemic Cardiomyopathy after Syncope or Termination of Sudden Arrhythmic Death. Article Snippet: Data analysis was performed using the on-instrument MiSeq Reporter software 2.5.42.5 according to the BWA Enrichment workflow. .. Article Title: Postmortem Identification of Genetic Variations Associated with Sudden Unexpected Death in Young People. Article Snippet: .. 55 dam / illumina-marketing / documents / products / gene _ lists / gene_list_trusight_one.zip) (Tables I, II).13-15) Variants were filtered using Article Title: Mutational Spectrum and Genotype-phenotype Correlations in Neurofibromatosis Type 1 Patients from North Macedonia: Identification of Ten Novel NF1 Pathogenic Variants Article Snippet: The raw sequence data were aligned against the reference genome as specified in the manifest file using MiSeq Reporter software (v2.6.3). .. The VCF output file was used for variant calling and filtering with Article Title: PIK3CA and PIK3R1 tumor mutational landscape in a pan-cancer patient cohort and its association with pathway activation and treatment efficacy. Article Snippet: .. Variant Call Format (VCF) files were annotated with Article Title: Pathogenicity assessment of genetic variants identified in patients with severe hypertriglyceridemia: novel cases of Familial Chylomicronemia Syndrome from the Dyslipidemia Registry of the Spanish Atherosclerosis Society. Article Snippet: Mj Ariza, I. Coca-Prieto, José Rioja, Ovidio Muñiz-Grijalvo, Daniel Zambón-Rados, Agustín Blanco-Echavarría, Teresa Arrobas-Velilla, Javier Delgado-Lista, David LeónJiménez, Marta Casañas-Martínez, Luis A. Álvarez-Sala-Walther, Liliana GutiérrezCarrasquilla, Justo Sánchez-Gil, Mónica Domènech, Andrés González-Jiménez, Ma José Benítez-Toledo, Javier Espíldora-Hernández, Emilio Ortega-Martínez de Victoria, Ma Sánchez-Chaparro, Pedro Valdivielso Next-Generation Sequencing:Article Title: Biallelic variants in ZNF526 cause a severe neurodevelopmental disorder with microcephaly, bilateral cataract, epilepsy and simplified gyration. Article Snippet: © Author(s) (or their employer(s)) 2022.. No commercial reuse.. See rights and permissions. other:Article Title: DAB2IP associates with hereditary angioedema: Insights into the role of VEGF signaling in HAE pathophysiology. Article Snippet: Background: In the recent years, there was an important improvement in the understanding of the pathogenesis of hereditary angioedema (HAE).. Notwithstanding, in a large portion of patients with unknown mutation (HAE-UNK) the genetic cause remains to be identified.. Objectives: To identify new genetic targets associated with HAE, a large Argentine family with HAE-UNK spanning 3 generations was studied. |