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| Application of Whole Exome Sequencing to Identify Disease-Causing Variants in Inherited Human Diseases |
| Gerald Goh, Murim Choi |
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Genomics Inform. 2012;10(4):214-219. Published online December 31, 2012 DOI: https://doi.org/10.5808/GI.2012.10.4.214 |
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Application of Whole Exome Sequencing to Identify Disease-Causing Variants in Inherited Human Diseases Genomics & Informatics. 2012;10(4):214  Using whole-exome sequencing to identify variants inherited from mosaic parents European Journal of Human Genetics. 2014;23(4):547-550 Whole Exome Sequencing Reveals Novel and Recurrent Disease-Causing Variants in Lens Specific Gap Junctional Protein Encoding Genes Causing Congenital Cataract Genes. 2020;11(5):512 UTILIZATION OF WHOLE EXOME SEQUENCING DATA TO IDENTIFY CLINICALLY RELEVANT PHARMACOGENOMIC VARIANTS IN INFLAMMATORY BOWEL DISEASE Inflammatory Bowel Diseases. 2021;27(Supplement_1):S32-S32 Using Whole Exome Sequencing to Identify Candidate Genes With Rare Variants In Nonsyndromic Cleft Lip and Palate Genetic Epidemiology. 2016;40(5):432-441 Whole-exome Sequencing Identify Rare Variants in Novel Candidate Genes with Non-syndromic Patent Ductus Arteriosus . 2021; P88 Using whole exome sequencing to identify the mutation causing oculopharyngodistal myopathy Neuromuscular Disorders. 2012;22:S31-S32 Analysis and Annotation of Whole‐Genome or Whole‐Exome Sequencing–Derived Variants for Clinical Diagnosis Current Protocols in Human Genetics. 2013;79(1): Analysis and Annotation of Whole‐Genome or Whole‐Exome Sequencing Derived Variants for Clinical Diagnosis Current Protocols in Human Genetics. 2017;95(1): O1‐03‐04: Whole Exome Sequencing in Healthy Elderly APOE E44 Subjects to Identify Protective Variants in Alzheimer’s Disease Alzheimer's & Dementia. 2016;12(7S_Part_3): |
