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Identification of rare sequence variation underlying heritable pulmonary arterial hypertension

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Using Exome Sequencing to Reveal Mutations in TREM2 Presenting as a Frontotemporal Dementia–like Syndrome Without Bone Involvement

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Mutation of the Human Circadian Clock Gene CRY1 in Familial Delayed Sleep Phase Disorder

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Gaining comprehensive biological insight into the transcriptome by performing a broad-spectrum RNA-seq analysis

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Genome-Wide Comparison of Medieval and Modern Mycobacterium leprae

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Convergent genomic signatures of domestication in sheep and goats

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Coordinated Effects of Sequence Variation on DNA Binding, Chromatin Structure, and Transcription

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Genome-wide profiling of heritable and de novo STR variations

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Pharmacological and genomic profiling identifies NF-κB-targeted treatment strategies for mantle cell lymphoma

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Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma

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Punctuated bursts in human male demography inferred from 1,244 worldwide Y-chromosome sequences

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The genetic prehistory of the New World Arctic

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Fitness Trade-offs Restrict the Evolution of Resistance to Amphotericin B

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Mutations in BCKD-kinase Lead to a Potentially Treatable Form of Autism with Epilepsy

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PERCH: A Unified Framework for Disease Gene Prioritization: HUMAN MUTATION

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Genomic Analyses from Non-invasive Prenatal Testing Reveal Genetic Associations, Patterns of Viral Infections, and Chinese Population History

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Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts

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Domains of genome-wide gene expression dysregulation in Down’s syndrome

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Comparative performance of the BGISEQ-500 vs Illumina HiSeq2500 sequencing platforms for palaeogenomic sequencing

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Organoid Cultures as Preclinical Models of Non–Small Cell Lung Cancer

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Terminal Pleistocene Alaskan genome reveals first founding population of Native Americans

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Origins and genetic legacy of prehistoric dogs

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Effect of predicted protein-truncating genetic variants on the human transcriptome

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The reductive glycine pathway allows autotrophic growth of Desulfovibrio desulfuricans

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Histone Acetylome-wide Association Study of Autism Spectrum Disorder

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Cas9 activates the p53 pathway and selects for p53-inactivating mutations

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The exomes of the NCI-60 panel: a genomic resource for cancer biology and systems pharmacology

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Extremely low-coverage sequencing and imputation increases power for genome-wide association studies

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Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder

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Recombination initiation maps of individual human genomes

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Deep learning-based prediction of the T cell receptor–antigen binding specificity

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Early Neolithic genomes from the eastern Fertile Crescent

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