Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease

Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data

(2020) Xiao Chen et al.   GENETICS IN MEDICINE

The Medical Genome Initiative: moving whole-genome sequencing for rare disease diagnosis to the clinic

(2020) Christian R. Marshall et al.   Genome Medicine

Predicting Splicing from Primary Sequence with Deep Learning

(2019) Kishore Jaganathan et al.   CELL

Clinical whole genome sequencing as a first-tier test at a resource-limited dysmorphology clinic in Mexico

(2019) Alicia Scocchia et al.   npj Genomic Medicine

Best practices for benchmarking germline small-variant calls in human genomes

(2019) Peter Krusche et al.   NATURE BIOTECHNOLOGY

Evaluating heteroplasmic variations of the mitochondrial genome from whole genome sequencing data

(2019) Mengqin Duan et al.   GENE

Case for genome sequencing in infants and children with rare, undiagnosed or genetic diseases

(2019) David Bick et al.   JOURNAL OF MEDICAL GENETICS

An open resource for accurately benchmarking small variant and reference calls

(2019) Justin M. Zook et al.   NATURE BIOTECHNOLOGY

A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio, Rapid Genome and Exome Sequencing in Ill Infants

(2019) Stephen F. Kingsmore et al.   AMERICAN JOURNAL OF HUMAN GENETICS

From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability

(2019) Anna Lindstrand et al.   Genome Medicine

A Comprehensive Workflow for Read Depth-Based Identification of Copy-Number Variation from Whole-Genome Sequence Data

(2018) Brett Trost et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Characterization and remediation of sample index swaps by non-redundant dual indexing on massively parallel sequencing platforms

(2018) Maura Costello et al.   BMC GENOMICS

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

Standards and Guidelines for Validating Next-Generation Sequencing Bioinformatics Pipelines

(2018) Somak Roy et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization

(2018) Lauge Farnaes et al.   npj Genomic Medicine

Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases

(2018) Michelle M. Clark et al.   npj Genomic Medicine

Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations

(2018) Amit V. Khera et al.   NATURE GENETICS

ALPHLARD: a Bayesian method for analyzing HLA genes from whole genome sequence data

(2018) Shuto Hayashi et al.   BMC GENOMICS

Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease

(2018) Andrew M. Gross et al.   GENETICS IN MEDICINE

Somatic mosaicism and neurodevelopmental disease

(2018) Alissa M. D’Gama et al.   NATURE NEUROSCIENCE

Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test

(2017) Anath C Lionel et al.   GENETICS IN MEDICINE

Detection of long repeat expansions from PCR-free whole-genome sequence data

(2017) Egor Dolzhenko et al.   GENOME RESEARCH

Guidelines for Validation of Next-Generation Sequencing–Based Oncology Panels

(2017) Lawrence J. Jennings et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Reference standards for next-generation sequencing

(2017) Simon A. Hardwick et al.   NATURE REVIEWS GENETICS

Use of Exome Sequencing for Infants in Intensive Care Units

(2017) Linyan Meng et al.   JAMA Pediatrics

Genome sequencing as a platform for pharmacogenetic genotyping: a pediatric cohort study

(2017) Iris Cohn et al.   npj Genomic Medicine

Toward clinical genomics in everyday medicine: perspectives and recommendations

(2016) Susan K. Delaney et al.   EXPERT REVIEW OF MOLECULAR DIAGNOSTICS

A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders

(2016) Zornitza Stark et al.   GENETICS IN MEDICINE

A reference data set of 5.4 million phased human variants validated by genetic inheritance from sequencing a three-generation 17-member pedigree

(2016) Michael A. Eberle et al.   GENOME RESEARCH

Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine

(2016) Dimitri J Stavropoulos et al.   npj Genomic Medicine

College of American Pathologists' Laboratory Standards for Next-Generation Sequencing Clinical Tests

(2015) Nazneen Aziz et al.   ARCHIVES OF PATHOLOGY & LABORATORY MEDICINE

Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects

(2015) Terry Vrijenhoek et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Guidelines for diagnostic next-generation sequencing

(2015) Gert Matthijs et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Exome sequencing and whole genome sequencing for the detection of copy number variation

(2015) Jayne Y Hehir-Kwa et al.   EXPERT REVIEW OF MOLECULAR DIAGNOSTICS

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

Comparison of Exome and Genome Sequencing Technologies for the Complete Capture of Protein-Coding Regions

(2015) Stefan H. Lelieveld et al.   HUMAN MUTATION

The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists

(2015) Kym Boycott et al.   JOURNAL OF MEDICAL GENETICS

Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data

(2015) Caroline F Wright et al.   LANCET

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

(2015) Jenny C Taylor et al.   NATURE GENETICS

Whole-genome sequencing of quartet families with autism spectrum disorder

(2015) Ryan K C Yuen et al.   NATURE MEDICINE

Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants

(2015) Aziz Belkadi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing

(2015) Daniele Merico et al.   Nature Communications

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

Genome sequencing identifies major causes of severe intellectual disability

(2014) Christian Gilissen et al.   NATURE

Integrating human sequence data sets provides a resource of benchmark SNP and indel genotype calls

(2014) Justin M Zook et al.   NATURE BIOTECHNOLOGY

Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders

(2014) S. E. Soden et al.   Science Translational Medicine

ACMG clinical laboratory standards for next-generation sequencing

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

Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis

(2013) Michael N Weedon et al.   NATURE GENETICS

Clinical Integration of Next-Generation Sequencing Technology

(2012) R.R. Gullapalli et al.   CLINICS IN LABORATORY MEDICINE

Points to consider in the clinical application of genomic sequencing

(2012)   GENETICS IN MEDICINE

Rapid Whole-Genome Sequencing for Genetic Disease Diagnosis in Neonatal Intensive Care Units

(2012) C. J. Saunders et al.   Science Translational Medicine