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Orthogonal NGS for High Throughput Clinical Diagnostics
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.
Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs
A novel de novo mutation in ATP1A3 and childhood-onset schizophrenia
Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes
The BabySeq project: implementing genomic sequencing in newborns
