Next Generation Sequencing of Prenatal Structural Chromosomal Rearrangements Using Large-Insert Libraries.

Currall, Benjamin B; Antolik, Caroline W; Collins, Ryan L; Talkowski, Michael E

Currall, Benjamin B; Antolik, Caroline W; Collins, Ryan L; Talkowski, Michael E.

Affiliation

Currall BB; Massachusetts General Hospital, Boston, MA, USA.
Antolik CW; Broad Institute, Harvard Medical School, Cambridge, MA, USA.
Collins RL; Massachusetts General Hospital, Boston, MA, USA.
Talkowski ME; Broad Institute, Harvard Medical School, Cambridge, MA, USA.

Methods Mol Biol ; 1885: 251-265, 2019.

Article in En | MEDLINE | ID: mdl-30506203

Subject(s)

High-Throughput Nucleotide Sequencing; Prenatal Diagnosis/methods; Translocation, Genetic; Chromosome Aberrations; DNA Copy Number Variations; DNA Fragmentation; Gene Library; High-Throughput Nucleotide Sequencing/methods; Humans

Key words

Chromosomal abnormalities; Copy-number variation; Jumping libraries; Prenatal diagnosis; Structural variation; Whole-genome sequencing

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Prenatal Diagnosis / Translocation, Genetic / High-Throughput Nucleotide Sequencing Type of study: Diagnostic_studies / Guideline Limits: Humans Language: En Journal: Methods Mol Biol Journal subject: BIOLOGIA MOLECULAR Year: 2019 Document type: Article Affiliation country: United States Country of publication: United States

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