4.4 Review

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

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。
Article Biochemistry & Molecular Biology

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

Klaus Schmitz-Abe et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2019)

Article Genetics & Heredity

Analyzing and Reanalyzing the Genome: Findings from the MedSeq Project

Kalotina Machini et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2019)

Article Biochemistry & Molecular Biology

Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing

Ange-Line Bruel et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2019)

Article Biochemistry & Molecular Biology

A head-to-head evaluation of the diagnostic efficacy and costs of trio versus singleton exome sequencing analysis

Tiong Yang Tan et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2019)

Article Clinical Neurology

Novel pathogenic variants and multiple molecular diagnoses in neurodevelopmental disorders

Joanne Trinh et al.

JOURNAL OF NEURODEVELOPMENTAL DISORDERS (2019)

Letter Medicine, General & Internal

Reanalysis of Clinical Exome Sequencing Data

Pengfei Liu et al.

NEW ENGLAND JOURNAL OF MEDICINE (2019)

Article Pathology

Automated Clinical Exome Reanalysis Reveals Novel Diagnoses

Samuel W. Baker et al.

JOURNAL OF MOLECULAR DIAGNOSTICS (2019)

Article Genetics & Heredity

De novo variants in the alternative exon 5 of SCN8A cause epileptic encephalopathy

Samuel F. Berkovic et al.

GENETICS IN MEDICINE (2018)

Article Genetics & Heredity

Systematic reanalysis of genomic data improves quality of variant interpretation

S. M. Hiatt et al.

CLINICAL GENETICS (2018)

Article Biochemistry & Molecular Biology

Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing

Gregory Costain et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2018)

Article Genetics & Heredity

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

Maryam Al-Nabhani et al.

CLINICAL GENETICS (2018)

Article Genetics & Heredity

Insights into the genotype-phenotype correlation and molecular function of SLC25A46

Alexander J. Abrams et al.

HUMAN MUTATION (2018)

Article Genetics & Heredity

Detecting Expansions of Tandem Repeats in Cohorts Sequenced with Short-Read Sequencing Data

Rick M. Tankard et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2018)

Article Genetics & Heredity

Marked yield of re-evaluating phenotype and exome/target sequencing data in 33 individuals with intellectual disabilities

Bing Xiao et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2018)

Article Genetics & Heredity

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

Aaron M. Wenger et al.

GENETICS IN MEDICINE (2017)

Article Genetics & Heredity

Increasing the sensitivity of clinical exome sequencing through improved filtration strategy

Hanan E. Shamseldin et al.

GENETICS IN MEDICINE (2017)

Editorial Material Genetics & Heredity

The importance of dynamic re-analysis in diagnostic whole exome sequencing

Anna C. Need et al.

JOURNAL OF MEDICAL GENETICS (2017)

Article Genetics & Heredity

Lessons learned from additional research analyses of unsolved clinical exome cases

Mohammad K. Eldomery et al.

GENOME MEDICINE (2017)

Article Genetics & Heredity

Genomic diagnosis for children with intellectual disability and/or developmental delay

Kevin M. Bowling et al.

GENOME MEDICINE (2017)

Article Genetics & Heredity

International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases

Kym M. Boycott et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2017)

Article Genetics & Heredity

Cpipe: a shared variant detection pipeline designed for diagnostic settings

Simon P. Sadedin et al.

GENOME MEDICINE (2015)