Clinical Exome Reanalysis: Current Practice and Beyond

Application of Whole-Exome Sequencing in Detecting Copy Number Variants in Patients with Developmental Delay and/or Multiple Congenital Malformations

(2020) Évelin A. Zanardo et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Partially automated whole-genome sequencing reanalysis of previously undiagnosed pediatric patients can efficiently yield new diagnoses

(2020) Kiely N. James et al.   npj Genomic Medicine

A three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysis

(2020) Jasmine L. F. Fung et al.   npj Genomic Medicine

Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review

(2020) Natalie B. Tan et al.   Molecular Genetics & Genomic Medicine

The added value of WES reanalysis in the field of genetic diagnosis: lessons learned from 200 exomes in the Lebanese population

(2019) Nadine Jalkh et al.   BMC Medical Genomics

Reanalysis of whole exome sequencing data in patients with epilepsy and intellectual disability/mental retardation

(2019) Jinliang Li et al.   GENE

The Epilepsy Genetics Initiative: Systematic reanalysis of diagnostic exomes increases yield

(2019)   EPILEPSIA

Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes

(2019) Klaus Schmitz-Abe et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Points to consider in the reevaluation and reanalysis of genomic test results: a statement of the American College of Medical Genetics and Genomics (ACMG)

(2019) Joshua L. Deignan et al.   GENETICS IN MEDICINE

Reanalysis of Clinical Exome Sequencing Data

(2019) Pengfei Liu et al.   NEW ENGLAND JOURNAL OF MEDICINE

Artificial intelligence in clinical and genomic diagnostics

(2019) Raquel Dias et al.   Genome Medicine

Re-analysis of whole-exome sequencing data uncovers novel diagnostic variants and improves molecular diagnostic yields for sudden death and idiopathic diseases

(2019) Elias L. Salfati et al.   Genome Medicine

Artificial Intelligence in Medical Practice: The Question to the Answer?

(2018) D. Douglas Miller et al.   AMERICAN JOURNAL OF MEDICINE

Underdiagnoses resulting from variant misinterpretation: Time for systematic reanalysis of whole exome data?

(2018) Fathiya Al-Murshedi et al.   European Journal of Medical Genetics

Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders

(2018) Lisa J Ewans et al.   GENETICS IN MEDICINE

Prevalence and properties of intragenic copy-number variation in Mendelian disease genes

(2018) Rebecca Truty et al.   GENETICS IN MEDICINE

Reanalysis of exome sequencing data of intellectual disability samples: Yields and benefits

(2018) Maryam Al-Nabhani et al.   CLINICAL GENETICS

ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis

(2018) Cole A. Deisseroth et al.   GENETICS IN MEDICINE

Patient re-contact after revision of genomic test results: points to consider—a statement of the American College of Medical Genetics and Genomics (ACMG)

(2018) Karen L. David et al.   GENETICS IN MEDICINE

The value of genomic variant ClinVar submissions from clinical providers: Beyond the addition of novel variants

(2018) Karen E. Wain et al.   HUMAN MUTATION

Automated Clinical Exome Reanalysis Reveals Novel Diagnoses

(2018) Samuel W. Baker et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Identifying facial phenotypes of genetic disorders using deep learning

(2018) Yaron Gurovich et al.   NATURE MEDICINE

OMIM.org: leveraging knowledge across phenotype–gene relationships

(2018) Joanna S Amberger et al.   NUCLEIC ACIDS RESEARCH

Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis

(2017) Sophie Nambot et al.   GENETICS IN MEDICINE

Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation

(2017) Jennifer E. Posey et al.   NEW ENGLAND JOURNAL OF MEDICINE

Systematic reanalysis of clinical exome data yields additional diagnoses: implications for providers

(2016) Aaron M. Wenger et al.   GENETICS IN MEDICINE

Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency

(2015) William P. Bone et al.   GENETICS IN MEDICINE

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

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Enhanced utility of family-centered diagnostic exome sequencing with inheritance model–based analysis: results from 500 unselected families with undiagnosed genetic conditions

(2014) Kelly D. Farwell et al.   GENETICS IN MEDICINE

Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

(2014) Yaping Yang et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders

(2014) Hane Lee et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders

(2014) Joanna S. Amberger et al.   NUCLEIC ACIDS RESEARCH

Reducing INDEL calling errors in whole genome and exome sequencing data

(2014) Han Fang et al.   Genome Medicine