Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration [PDF]
, 2011 Tyler Mark Pierson +15 more
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Genetic diagnosis by whole exome capture and massively parallel DNA sequencing
, 2009 Murim Choi +13 more
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Exome capture and massively parallel sequencing identifies a novel HPSE2 mutation in a Saudi Arabian child with Ochoa (urofacial) syndrome [PDF]
, 2011 Wisam Al Badr +10 more
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Predicting valuable missense variants with AlphaMissense in a multiple pulmonary infection patient
Clinical Case ReportsKey Clinical Message AlphaMissense is proficient in predicting the clinical classification of missense variants. we utilized AlphaMissense to find disease‐relevant variants within a polymicrobial pulmonary infection case.
Tianyuan Wang +8 more
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Incorporating predicted functions of nonsynonymous variants into gene-based analysis of exome sequencing data: a comparative study [PDF]
, 2011 Peng Wei, Xiaoming Liu, Yun-Xin Fu
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Network-based Neighborhood regression [PDF]
arXivGiven the ubiquity of modularity in biological systems, module-level regulation analysis is vital for understanding biological systems across various levels and their dynamics. Current statistical analysis on biological modules predominantly focuses on either detecting the functional modules in biological networks or sub-group regression on the ...
arxiv
Exome Sequencing Links Gene Mutation in Angiopoietin-Like Protein 3 With Low-Density Lipoprotein Cholesterol [PDF]
, 2011 Nicole L. Glazer
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Exome sequencing supports a de novo mutational paradigm for schizophrenia [PDF]
, 2011 Bin Xu +7 more
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Whole-Exome Sequencing Links a Variant in DHDDS to Retinitis Pigmentosa [PDF]
, 2011 Stephan Züchner +21 more
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