Clinical application of prospective whole‐exome sequencing in the diagnosis of genetic disease: Experience of a regional disease center in South Korea

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Exome sequencing reveals genetic architecture in patients with isolated or syndromic short stature

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A Comparison of Tools for Copy-Number Variation Detection in Germline Whole Exome and Whole Genome Sequencing Data

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Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE

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Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework

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OMIM.org: leveraging knowledge across phenotype–gene relationships

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Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature

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ClinVar: improving access to variant interpretations and supporting evidence

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Phenotype Similarity Regression for Identifying the Genetic Determinants of Rare Diseases

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Recommendations for the integration of genomics into clinical practice

(2016) Sarah Bowdin et al.   GENETICS IN MEDICINE

Clinical application of whole-exome sequencing across clinical indications

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Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

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Genetic studies in intellectual disability and related disorders

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Trimmomatic: a flexible trimmer for Illumina sequence data

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Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome/genome sequencing

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Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

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Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders

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Rare-disease genetics in the era of next-generation sequencing: discovery to translation

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Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

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The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

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A de novo paradigm for mental retardation

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Clinical Diagnostics in Human Genetics with Semantic Similarity Searches in Ontologies

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The Sequence Alignment/Map format and SAMtools

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Fast and accurate short read alignment with Burrows-Wheeler transform

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Targeted capture and massively parallel sequencing of 12 human exomes

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Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

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