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Proteogenomics: Integrating Next-Generation Sequencing and Mass Spectrometry to Characterize Human Proteomic Variation

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An Update on MYBPC3 Gene Mutation in Hypertrophic Cardiomyopathy

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A Comparison of mRNA Sequencing with Random Primed and 3′-Directed Libraries

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Mouse mutants in schizophrenia risk genes GRIN2A and AKAP11 show EEG abnormalities in common with schizophrenia patients

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Loss of MANF Causes Childhood-Onset Syndromic Diabetes Due to Increased Endoplasmic Reticulum Stress

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GRIN2A (NR2A): a gene contributing to glutamatergic involvement in schizophrenia

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Tolerance to Selenoprotein Loss Differs between Human and Mouse

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Whole exome sequencing analyses reveal gene–microbiota interactions in the context of IBD

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A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project

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Discovery of rare variants for complex phenotypes

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Human Retrotransposon Insertion Polymorphisms Are Associated with Health and Disease via Gene Regulatory Phenotypes

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Molecular Diagnosis of Inherited Coagulation and Bleeding Disorders

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Evaluation of the MGISEQ-2000 Sequencing Platform for Illumina Target Capture Sequencing Libraries

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Current and future therapeutic approaches to the congenital myopathies

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Shared genetic variants for polypoidal choroidal vasculopathy and typical neovascular age-related macular degeneration in East Asians

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GTEx detects genetic effects

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Base-specific mutational intolerance near splice sites clarifies the role of nonessential splice nucleotidesPreprint

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Functional annotation of rare structural variation in the human brain

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MHC Hammer reveals genetic and non-genetic HLA disruption in cancer evolution

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Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns

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The contribution of alternative splicing to genetic risk for psychiatric disorders

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Pan-Cancer Analysis of Immune Complement Signature C3/C5/C3AR1/C5AR1 in Association with Tumor Immune Evasion and Therapy Resistance

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Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores

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Nonsense-mediated decay is highly stable across individuals and tissues

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Genome-wide association meta-analysis of corneal curvature identifies novel loci and shared genetic influences across axial length and refractive error

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Associations of CDH1 germline variant location and cancer phenotype in families with hereditary diffuse gastric cancer (HDGC)

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Nonsense-mediated decay is highly stable across individuals and tissues

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The Characteristics of Heterozygous Protein Truncating Variants in the Human Genome

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Medical relevance and functional consequences of protein truncating variants

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Unveiling the Hidden Rules: Enhancing NMD Prediction for Protein-Truncating VariantsPreprint

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A polyclonal allelic expression assay for detecting regulatory effects of transcript variants

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