相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。Experiences with array-based sequence capture; toward clinical applications
Rowida Almomani et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2011)
Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: Implications for application to clinical testing
Jonathan S. Berg et al.
GENETICS IN MEDICINE (2011)
Analyzing and minimizing PCR amplification bias in Illumina sequencing libraries
Daniel Aird et al.
GENOME BIOLOGY (2011)
Whole-Exome-Sequencing-Based Discovery of Human FADD Deficiency
Alexandre Bolze et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2010)
Evaluation of Oligonucleotide Sequence Capture Arrays and Comparison of Next-Generation Sequencing Platforms for Use in Molecular Diagnostics
Nicole Hoppman-Chaney et al.
CLINICAL CHEMISTRY (2010)
Immunoglobulin class switch recombination deficiencies
S. Kracker et al.
CLINICAL IMMUNOLOGY (2010)
Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma
Minji Byun et al.
JOURNAL OF EXPERIMENTAL MEDICINE (2010)
A method and server for predicting damaging missense mutations
Ivan A. Adzhubei et al.
NATURE METHODS (2010)
Exome Sequencing, ANGPTL3 Mutations, and Familial Combined Hypolipidemia
Kiran Musunuru et al.
NEW ENGLAND JOURNAL OF MEDICINE (2010)
Ataxia-telangiectasia patients presenting with hyper-IgM syndrome
J. G. Noordzij et al.
ARCHIVES OF DISEASE IN CHILDHOOD (2009)
BioMart - biological queries made easy
Damian Smedley et al.
BMC GENOMICS (2009)
Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing
Andreas Gnirke et al.
NATURE BIOTECHNOLOGY (2009)
Artemis sheds new light on V(D)J recombination
F Le Deist et al.
IMMUNOLOGICAL REVIEWS (2004)
Artemis, a novel DNA double-strand break repair/V(D)J recombination protein, is mutated in human severe combined immune deficiency
D Moshous et al.
CELL (2001)
分享论文
