Increased Sensitivity of Diagnostic Mutation Detection by Re-analysis Incorporating Local Reassembly of Sequence Reads.

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Increased Sensitivity of Diagnostic Mutation Detection by Re-analysis Incorporating Local Reassembly of Sequence Reads.

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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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Increased Sensitivity of Diagn ...... Reassembly of Sequence Reads.

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Increased Sensitivity of Diagn ...... Reassembly of Sequence Reads.

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Increased Sensitivity of Diagn ...... Reassembly of Sequence Reads.

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Increased Sensitivity of Diagn ...... Reassembly of Sequence Reads.

@en

Increased Sensitivity of Diagn ...... Reassembly of Sequence Reads.

@en-gb

Increased Sensitivity of Diagn ...... Reassembly of Sequence Reads.

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Increased Sensitivity of Diagn ...... Reassembly of Sequence Reads.

@en

Increased Sensitivity of Diagn ...... Reassembly of Sequence Reads.

@en-gb

Increased Sensitivity of Diagn ...... Reassembly of Sequence Reads.

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2-s2.0-85030707184

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Molecular Diagnosis and Therapy

P1476

Increased Sensitivity of Diagn ...... l Reassembly of Sequence Reads

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P2093

Alexander F Markham

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David T Bonthron

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Ian M Carr

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Laura A Crinnion

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Nick Camm

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Rachel L Robinson

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Ruth Charlton

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Samuel Clokie

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P2860

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

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Fast and accurate short read alignment with Burrows-Wheeler transform

Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration

A standardized framework for the validation and verification of clinical molecular genetic tests

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ABRA: improved coding indel detection via assembly-based realignment.

Large-scale whole-genome sequencing of the Icelandic population.

Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping

Systematic comparison of variant calling pipelines using gold standard personal exome variants.

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685-692

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scholarly article

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10.1007/S40291-017-0304-X

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Julian Weldon Adlard

Christopher M Watson

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27165052

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2017-12-01T00:00:00Z

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1092115295

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2763649298

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28986857

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