Your browser doesn't support javascript.
loading
Interpretable prioritization of splice variants in diagnostic next-generation sequencing.
Danis, Daniel; Jacobsen, Julius O B; Carmody, Leigh C; Gargano, Michael A; McMurry, Julie A; Hegde, Ayushi; Haendel, Melissa A; Valentini, Giorgio; Smedley, Damian; Robinson, Peter N.
Afiliação
  • Danis D; The Jackson Laboratory for Genomic Medicine, 10 Discovery Drive, Farmington, CT 06032, USA.
  • Jacobsen JOB; William Harvey Research Institute, Charterhouse Square, Barts and the London School of Medicine and Dentistry Queen, Queen Mary University of London, EC1M 6BQ London, UK.
  • Carmody LC; The Jackson Laboratory for Genomic Medicine, 10 Discovery Drive, Farmington, CT 06032, USA.
  • Gargano MA; The Jackson Laboratory for Genomic Medicine, 10 Discovery Drive, Farmington, CT 06032, USA.
  • McMurry JA; University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
  • Hegde A; The Jackson Laboratory for Genomic Medicine, 10 Discovery Drive, Farmington, CT 06032, USA.
  • Haendel MA; University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
  • Valentini G; Anacleto Lab - Dipartimento di Informatica and DSRC, Università degli Studi di Milano, Via Celoria 18, 20133 Milan, Italy; CINI National Laboratory in Artificial Intelligence and Intelligent Systems-AIIS, Rome, Italy.
  • Smedley D; William Harvey Research Institute, Charterhouse Square, Barts and the London School of Medicine and Dentistry Queen, Queen Mary University of London, EC1M 6BQ London, UK.
  • Robinson PN; The Jackson Laboratory for Genomic Medicine, 10 Discovery Drive, Farmington, CT 06032, USA; Institute for Systems Genomics, University of Connecticut, Farmington, CT 06032, USA. Electronic address: peter.robinson@jax.org.
Am J Hum Genet ; 108(9): 1564-1577, 2021 09 02.
Article em En | MEDLINE | ID: mdl-34289339
Assuntos
Palavras-chave
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Algoritmos / Software / Splicing de RNA / Sítios de Splice de RNA / Curadoria de Dados / Doenças Genéticas Inatas Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Revista: Am J Hum Genet Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Algoritmos / Software / Splicing de RNA / Sítios de Splice de RNA / Curadoria de Dados / Doenças Genéticas Inatas Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Revista: Am J Hum Genet Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Estados Unidos