Classifying Germline Sequence Variants in the Era of Next-Generation Sequencing.

Baudhuin, Linnea M; Funke, Birgit H; Bean, Lora H; Deignan, Joshua L; Hofherr, Sean; Miller, David T; Nagan, Narasimhan; Santani, Avni; Saunders, Carol

Baudhuin, Linnea M; Funke, Birgit H; Bean, Lora H; Deignan, Joshua L; Hofherr, Sean; Miller, David T; Nagan, Narasimhan; Santani, Avni; Saunders, Carol.

Afiliación

Baudhuin LM; Associate Professor of Laboratory Medicine and Pathology, Co-director, Personalized Genomics Laboratory and Clinical Genome Sequencing Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN; baudhuin.linnea@mayo.edu.
Funke BH; Associate Director, Laboratory for Molecular Medicine at Partners HealthCare/Personalized Medicine, Cambridge, MA, Associate Professor of Pathology, Harvard Medical School/Massachusetts General Hospital, Boston, MA;
Bean LH; Senior Director, Molecular Laboratory, Emory Genetics Laboratory, Decatur, GA;
Deignan JL; Associate Director, UCLA Molecular Diagnostics Laboratories, Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at UCLA, Los Angeles, CA;
Hofherr S; Director, Molecular Diagnostics and Biochemical Genetics, Division of Laboratory Medicine, Children's National Medical Center, Washington, DC;
Miller DT; Medical Director, Claritas Genomics, Cambridge, MA, Medical Geneticist, Division of Genetics and Genomics, Boston Children's Hospital, Associate Professor of Pediatrics, Harvard Medical School, Boston, MA;
Nagan N; Director, Integrated Genetics, Laboratory Corporation of America® Holdings, Westborough, MA;
Santani A; Director, Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, Philadelphia, PA, Assistant Professor of Clinical Pathology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA;
Saunders C; Director, Molecular Genetics Laboratory, Department of Pathology and Laboratory Medicine, Children's Mercy, Kansas City, MO.

Clin Chem ; 62(6): 799-806, 2016 06.

Article en En | MEDLINE | ID: mdl-26861553

Asunto(s)

Variación Genética; Mutación de Línea Germinal/genética; Secuenciación de Nucleótidos de Alto Rendimiento/tendencias; Frecuencia de los Genes; Humanos

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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Variación Genética / Mutación de Línea Germinal / Secuenciación de Nucleótidos de Alto Rendimiento Idioma: En Revista: Clin Chem Asunto de la revista: QUIMICA CLINICA Año: 2016 Tipo del documento: Article

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