Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis.
about
How Primary Care Providers Talk to Patients about Genome Sequencing Results: Risk, Rationale, and Recommendation.Whole exome sequencing in neurogenetic odysseys: An effective, cost- and time-saving diagnostic approach.Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing.Reanalysis of clinical whole-exome sequence data yields multiple new diagnoses: A time-intensive but successful strategy highlights the benefits of data sharing and international collaborations
P2860
Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis.
description
2017 nî lūn-bûn
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2017年の論文
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2017年学术文章
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2017年学术文章
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2017年学术文章
@zh-cn
2017年学术文章
@zh-hans
2017年学术文章
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2017年学术文章
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2017年學術文章
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2017年學術文章
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name
Clinical whole-exome sequencin ...... prospective annual reanalysis.
@en
Clinical whole-exome sequencin ...... prospective annual reanalysis.
@nl
type
label
Clinical whole-exome sequencin ...... prospective annual reanalysis.
@en
Clinical whole-exome sequencin ...... prospective annual reanalysis.
@nl
prefLabel
Clinical whole-exome sequencin ...... prospective annual reanalysis.
@en
Clinical whole-exome sequencin ...... prospective annual reanalysis.
@nl
P2093
P2860
P50
P356
P1433
P1476
Clinical whole-exome sequencin ...... prospective annual reanalysis
@en
P2093
Alice Masurel-Paulet
Ange-Line Bruel
Anne-Laure Mosca-Boidron
Charlotte Poé
Christel Thauvin-Robinet
Christophe Philippe
Daphné Lehalle
Emilie Tisserant
Frederic Tran Mau-Them
Jean-Baptiste Rivière
P2860
P2888
P304
P356
10.1038/GIM.2017.162
P407
P577
2017-11-02T00:00:00Z
P6179
1092504063