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

This publication has 31 references indexed in Scilit:

• Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies
  Human Molecular Genetics, 2014
• Can We Afford to Sequence Every Newborn Baby's Genome?
  Human Mutation, 2014
• Genomics in Newborn Screening
  The Journal of Pediatrics, 2014
• The UCSC Genome Browser database: 2014 update
  Nucleic Acids Research, 2013
• ClinVar: public archive of relationships among sequence variation and human phenotype
  Nucleic Acids Research, 2013
• Standard enrichment methods for targeted next-generation sequencing in high-repeat genomic regions
  Genetics in Medicine, 2013
• Isaac: ultra-fast whole-genome secondary analysis on Illumina sequencing platforms
  Bioinformatics, 2013
• Clinical Genomic Database
  Proceedings of the National Academy of Sciences, 2013
• Rapid Whole-Genome Sequencing for Genetic Disease Diagnosis in Neonatal Intensive Care Units
  Science Translational Medicine, 2012
• The Effects of Gestational Age and Birth Weight on False-Positive Newborn-Screening Rates
  Pediatrics, 2010