Methods to Improve Molecular Diagnosis in Genomic Cold Cases in Pediatric Neurology.

Kadlubowska, Magda K; Schrauwen, Isabelle

Kadlubowska, Magda K; Schrauwen, Isabelle.

Affiliation

Kadlubowska MK; Center for Statistical Genetics, Sergievsky Center, Department of Neurology, Columbia University Medical Center, New York, NY 10032, USA.
Schrauwen I; Center for Statistical Genetics, Sergievsky Center, Department of Neurology, Columbia University Medical Center, New York, NY 10032, USA.

Genes (Basel) ; 13(2)2022 02 11.

Article in En | MEDLINE | ID: mdl-35205378

Subject(s)

Artificial Intelligence; Neurology; Child; Genetic Testing; Genome, Human; Genomics/methods; Humans

Key words

diagnosis; exome sequencing; genome sequencing; integrative omics; long-read sequencing; mosaicism; neurology; non-Mendelian inheritance; optical genome mapping; unsolved cases

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Artificial Intelligence / Neurology Type of study: Diagnostic_studies / Prognostic_studies Limits: Child / Humans Language: En Journal: Genes (Basel) Year: 2022 Document type: Article Affiliation country: United States Country of publication: Switzerland

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