Next Generation Sequencing in the Clinic

scientific article published on 13 February 2016

Next Generation Sequencing in the Clinic is …
instance of (P31):
editorialQ871232
scholarly articleQ13442814

External links are
P356DOI10.1007/S12098-016-2035-0
P698PubMed publication ID26872684

P2093author name stringRatna Dua Puri
P2860cites workStandards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular PathologyQ34465792
Development of a Targeted Multi-Disorder High-Throughput Sequencing Assay for the Effective Identification of Disease-Causing Variants.Q35716022
Whole-genome sequencing for optimized patient managementQ35857612
Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birthQ36292736
The usefulness of whole-exome sequencing in routine clinical practice.Q50657606
Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders.Q50967429
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencingQ57642222
Targeted Next Generation Sequencing Identifies a Novel Deletion in LAMA2 Gene in a Merosin Deficient Congenital Muscular Dystrophy PatientQ85445096
P433issue4
P304page(s)281-282
P577publication date2016-02-13
P1433published inIndian Journal of PediatricsQ26842079
P1476titleNext Generation Sequencing in the Clinic
P478volume83

Reverse relations

Q54090777Novel LAMA2 Gene Mutations Associated with Merosin-Deficient Congenital Muscular Dystrophycites workP2860

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