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Exome

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Related literature

Atypical Biallelic Inheritance in "Dominant" Genes: Evidence From a Large-Scale Consanguineus Exome Cohort.
Exome
A rare missense variant in Bruton's tyrosine kinase is associated with bipolar disorder accompanied by psychosis.
Exome
Analysis of rare coding variants in schizophrenia-associated genes and generalised cognition in the UK Biobank.
Exome
Multi-ancestry analysis of 791K whole genomes reveals the genetic, geographic, and phenotypic correlates of somatic passenger mutations in blood
Exome
Gene identity, not variant effect, dominates ClinVar benchmarks of missense pathogenicity predictors
Exome
Exploring Rare Genetic Variation Underlying Metabolic Traits in the Fenland Cohort
Exome
Dominant truncating variants in KAT6A cause two neurodevelopmental disorders with opposite gene regulatory and metabolic changes.
Exome
Most published human disease RNA-seq cannot be uniformly reanalyzed: a population-scale audit of reprocessability in the Gene Expression Omnibus
Exome
Cross-species analysis of GNB1 I80T encephalopathy: conserved developmental, epileptic and neuronal transcriptome signatures
Exome
Resolving the immune response across clonal cancer evolution in situ with whole transcriptome profiling
Exome

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