Utility of whole-genome sequencing for detection of newborn screening disorders in a population cohort of 1,696 neonates

Unified representation of genetic variants

(2015) Adrian Tan et al.   BIOINFORMATICS

Can We Afford to Sequence Every Newborn Baby's Genome?

(2015) Jacques S. Beckmann   HUMAN MUTATION

Newborn Screening

(2015) Donald B. Bailey et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies

(2015) C. Dong et al.   HUMAN MOLECULAR GENETICS

Rapid pulsed whole genome sequencing for comprehensive acute diagnostics of inborn errors of metabolism

(2014) Henrik Stranneheim et al.   BMC GENOMICS

Clinical Exome Performance for Reporting Secondary Genetic Findings

(2014) J. Y. Park et al.   CLINICAL CHEMISTRY

Development of DNA Confirmatory and High-Risk Diagnostic Testing for Newborns Using Targeted Next-Generation DNA Sequencing

(2014) Arindam Bhattacharjee 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

Pathogenic mutations inGLI2cause a specific phenotype that is distinct from holoprosencephaly

(2014) Kelly A Bear et al.   JOURNAL OF MEDICAL GENETICS

Integrating mapping-, assembly- and haplotype-based approaches for calling variants in clinical sequencing applications

(2014) Andy Rimmer et al.   NATURE GENETICS

Germline Variation in Cancer-Susceptibility Genes in a Healthy, Ancestrally Diverse Cohort: Implications for Individual Genome Sequencing

(2014) Dale L. Bodian et al.   PLoS One

Whole-Genome Sequencing in Newborn Screening Programs

(2014) B. M. Knoppers et al.   Science Translational Medicine

Isaac: ultra-fast whole-genome secondary analysis on Illumina sequencing platforms

(2013) Come Raczy et al.   BIOINFORMATICS

Standard enrichment methods for targeted next-generation sequencing in high-repeat genomic regions

(2013) Patricia W. Mueller et al.   GENETICS IN MEDICINE

Genomics in Newborn Screening

(2013) Yuval E. Landau et al.   JOURNAL OF PEDIATRICS

Rare-disease genetics in the era of next-generation sequencing: discovery to translation

(2013) Kym M. Boycott et al.   NATURE REVIEWS GENETICS

RefSeq: an update on mammalian reference sequences

(2013) Kim D. Pruitt et al.   NUCLEIC ACIDS RESEARCH

ClinVar: public archive of relationships among sequence variation and human phenotype

(2013) Melissa J. Landrum et al.   NUCLEIC ACIDS RESEARCH

The UCSC Genome Browser database: 2014 update

(2013) Donna Karolchik et al.   NUCLEIC ACIDS RESEARCH

Clinical Genomic Database

(2013) B. D. Solomon et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

NIH Seeks Better Database for Genetic Diagnosis

(2013) Eliot Marshall   SCIENCE

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

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

Adopting orphans: comprehensive genetic testing of Mendelian diseases of childhood by next-generation sequencing

(2011) Stephen F Kingsmore et al.   EXPERT REVIEW OF MOLECULAR DIAGNOSTICS

False-Positive Newborn Screening Result and Future Health Care Use in a State Medicaid Cohort

(2011) B. A. Tarini et al.   PEDIATRICS

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

(2010) A. McKenna et al.   GENOME RESEARCH

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

The Effects of Gestational Age and Birth Weight on False-Positive Newborn-Screening Rates

(2010) J. L. Slaughter et al.   PEDIATRICS

G6PD-MutDB: A MUTATION AND PHENOTYPE DATABASE OF GLUCOSE-6-PHOSPHATE (G6PD) DEFICIENCY

(2010) XIN ZHAO et al.   Journal of Bioinformatics and Computational Biology

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS