Added Value of Reanalysis of Whole Exome- and Whole Genome Sequencing Data From Patients Suspected of Primary Immune Deficiency Using an Extended Gene Panel and Structural Variation Calling

Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay

(2022) Go Hun Seo et al.   MOLECULAR MEDICINE

The Ever-Increasing Array of Novel Inborn Errors of Immunity: an Interim Update by the IUIS Committee

(2021) Stuart G. Tangye et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

(2021) Leslie Matalonga et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Clinical Exome Reanalysis: Current Practice and Beyond

(2021) Jianling Ji et al.   Molecular Diagnosis & Therapy

Artificial intelligence (AI)-assisted exome reanalysis greatly aids in the identification of new positive cases and reduces analysis time in a clinical diagnostic laboratory

(2021) Timothy D. O’Brien et al.   GENETICS IN MEDICINE

Diagnostic Yield and Therapeutic Consequences of Targeted Next-Generation Sequencing in Sporadic Primary Immunodeficiency

(2021) Georgios Sogkas et al.   INTERNATIONAL ARCHIVES OF ALLERGY AND IMMUNOLOGY

Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee

(2020) Stuart G. Tangye et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Whole-genome sequencing of a sporadic primary immunodeficiency cohort

(2020) James E. D. Thaventhiran et al.   NATURE

Host genetics and infectious disease: new tools, insights and translational opportunities

(2020) Andrew J. Kwok et al.   NATURE REVIEWS GENETICS

The European Society for Immunodeficiencies (ESID) Registry Working Definitions for the Clinical Diagnosis of Inborn Errors of Immunity

(2019) Markus G. Seidel et al.   Journal of Allergy and Clinical Immunology-In Practice

Primary immunodeficiency and autoimmunity: A comprehensive review

(2019) Laura Amaya-Uribe et al.   JOURNAL OF AUTOIMMUNITY

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

The complete costs of genome sequencing: a microcosting study in cancer and rare diseases from a single center in the United Kingdom

(2019) Katharina Schwarze et al.   GENETICS IN MEDICINE

Increasing phenotypic annotation improves the diagnostic rate of exome sequencing in a rare neuromuscular disorder

(2019) Rachel Thompson et al.   HUMAN MUTATION

Diagnostic Yield of Next Generation Sequencing in Genetically Undiagnosed Patients with Primary Immunodeficiencies: a Systematic Review

(2019) Hemmo A. F. Yska et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Reanalysis of Clinical Exome Sequencing Data

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

Perspective: Evolving Concepts in the Diagnosis and Understanding of Common Variable Immunodeficiency Disorders (CVID)

(2019) Rohan Ameratunga et al.   CLINICAL REVIEWS IN ALLERGY & IMMUNOLOGY

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

PopViz: a webserver for visualizing minor allele frequencies and damage prediction scores of human genetic variations

(2018) Peng Zhang et al.   BIOINFORMATICS

Diagnostic Tools for Inborn Errors of Human Immunity (Primary Immunodeficiencies and Immune Dysregulatory Diseases)

(2018) Annely M. Richardson et al.   CURRENT ALLERGY AND ASTHMA REPORTS

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

(2018) Gregory Costain et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Genotype-phenotype correlation in FMF patients: A “non classic” recessive autosomal or “atypical” dominant autosomal inheritance?

(2018) V. Procopio et al.   GENE

A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative

(2018) Vandana Shashi et al.   GENETICS IN MEDICINE

Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders

(2018) Caroline F Wright et al.   GENETICS IN MEDICINE

Monogenic polyautoimmunity in primary immunodeficiency diseases

(2018) Gholamreza Azizi et al.   AUTOIMMUNITY REVIEWS

A plugin for the Ensembl Variant Effect Predictor that uses MaxEntScan to predict variant spliceogenicity

(2018) Jannah Shamsani et al.   BIOINFORMATICS

Automated Clinical Exome Reanalysis Reveals Novel Diagnoses

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

LAG-3 inhibits the activation of CD4+ T cells that recognize stable pMHCII through its conformation-dependent recognition of pMHCII

(2018) Takumi Maruhashi et al.   NATURE IMMUNOLOGY

Advances in the Care of Primary Immunodeficiencies (PIDs): from Birth to Adulthood

(2017) Nizar Mahlaoui et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Identification and Characterization of a Nationwide Danish Adult Common Variable Immunodeficiency Cohort

(2017) L. Westh et al.   SCANDINAVIAN JOURNAL OF IMMUNOLOGY

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

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

The crossroads of autoimmunity and immunodeficiency: Lessons from polygenic traits and monogenic defects

(2016) Bodo Grimbacher et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Manta: rapid detection of structural variants and indels for germline and cancer sequencing applications

(2015) Xiaoyu Chen et al.   BIOINFORMATICS

Mutations in the TLR3 signaling pathway and beyond in adult patients with herpes simplex encephalitis

(2015) N Mørk et al.   GENES AND IMMUNITY

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

Clinical application of whole-genome sequencing in patients with primary immunodeficiency

(2015) Talal Mousallem et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Practice parameter for the diagnosis and management of primary immunodeficiency

(2015) Francisco A. Bonilla et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Novel Primary Immunodeficiency Candidate Genes Predicted by the Human Gene Connectome

(2015) Yuval Itan et al.   Frontiers in Immunology

LUMPY: a probabilistic framework for structural variant discovery

(2014) Ryan M Layer et al.   GENOME BIOLOGY

Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration

(2012) H. Thorvaldsdottir et al.   BRIEFINGS IN BIOINFORMATICS

CNVnator: An approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing

(2011) A. Abyzov et al.   GENOME RESEARCH

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

(2010) A. McKenna et al.   GENOME RESEARCH