Concordance between whole-exome sequencing and clinical Sanger sequencing: implications for patient care.
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Next generation sequencing of the nidus of early (adenosquamous proliferation rich) radial sclerosing lesions of the breast reveals evidence for a neoplastic precursor lesion."Squirrel" Primer-Based PCR Assay for Direct and Targeted Sanger Sequencing of Short Genomic Segments.Non-reproducible sequence artifacts in FFPE tissue: an experience report.Evaluating the Calling Performance of a Rare Disease NGS Panel for Single Nucleotide and Copy Number Variants.Whole-exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families.A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy.Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases.
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P2860
Concordance between whole-exome sequencing and clinical Sanger sequencing: implications for patient care.
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article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 10 May 2016
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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Concordance between whole-exom ...... implications for patient care.
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Concordance between whole-exom ...... implications for patient care.
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Concordance between whole-exom ...... implications for patient care.
@en
Concordance between whole-exom ...... implications for patient care.
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Concordance between whole-exom ...... implications for patient care.
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Concordance between whole-exom ...... implications for patient care.
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P2093
P2860
P356
P1476
Concordance between whole-exom ...... implications for patient care.
@en
P2093
Alison Hamilton
Care4Rare Canada Consortium
David A Dyment
FORGE Canada Consortium
Kristin Kernohan
Martine Tétreault
Michael T Geraghty
Ruobing Zou
Taila Hartley
P2860
P304
P356
10.1002/MGG3.223
P577
2016-05-10T00:00:00Z