Towards a European consensus for reporting incidental findings during clinical NGS testing

Predictive genetic testing for adult-onset disorders in minors: a critical analysis of the arguments for and against the 2013 ACMG guidelines

(2014) J.A. Anderson et al.   CLINICAL GENETICS

The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience

(2014) Lauren Lawrence et al.   GENETICS IN MEDICINE

Guidelines for investigating causality of sequence variants in human disease

(2014) D. G. MacArthur et al.   NATURE

MutationTaster2: mutation prediction for the deep-sequencing age

(2014) Jana Marie Schwarz et al.   NATURE METHODS

Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome

(2014) T. Zemojtel et al.   Science Translational Medicine

Genomic Incidental Findings: Reducing the Burden to Be Fair

(2013) Velizara Anastasova et al.   AMERICAN JOURNAL OF BIOETHICS

Incidental Variants Are Critical for Genomics

(2013) Leslie G. Biesecker   AMERICAN JOURNAL OF HUMAN GENETICS

Actionable, Pathogenic Incidental Findings in 1,000 Participants’ Exomes

(2013) Michael O. Dorschner et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Empirical research on the ethics of genomic research

(2013) Anna Middleton et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Whole-genome sequencing in health care

(2013) Carla G van El et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic)

(2013) Mireille Claustres et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Recommendations for returning genomic incidental findings? We need to talk!

(2013) Wylie Burke et al.   GENETICS IN MEDICINE

Incidental findings in clinical genomics: a clarification

(2013)   GENETICS IN MEDICINE

Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium

(2013) Jonathan S. Berg et al.   GENETICS IN MEDICINE

ACMG clinical laboratory standards for next-generation sequencing

(2013) Heidi L. Rehm et al.   GENETICS IN MEDICINE

Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database

(2013) Bryony A Thompson et al.   NATURE GENETICS

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

(2013) Yaping Yang et al.   NEW ENGLAND JOURNAL OF MEDICINE

Communication of results and disclosure of incidental findings in longitudinal paediatric research

(2013) Velizara Anastasova et al.   PEDIATRIC ALLERGY AND IMMUNOLOGY

Call for Prudence in Whole-Genome Testing

(2013) C. G. van El et al.   SCIENCE

Patient Autonomy and Incidental Findings in Clinical Genomics

(2013) S. M. Wolf et al.   SCIENCE

Ethics and Genomic Incidental Findings

(2013) A. L. McGuire et al.   SCIENCE

Not-so-incidental findings: the ACMG recommendations on the reporting of incidental findings in clinical whole genome and whole exome sequencing

(2013) Megan Allyse et al.   TRENDS IN BIOTECHNOLOGY

Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing

(2013) Jason O'Rawe et al.   Genome Medicine

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

(2012) Anita Rauch et al.   LANCET

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

(2012) Joep de Ligt et al.   NEW ENGLAND JOURNAL OF MEDICINE

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results

(2008) Sharon E. Plon et al.   HUMAN MUTATION