The nature, pattern and function of human sequence variation

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AGAP duplicons associate with structural diversity at Chromosome 10q11.22.

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Annals of neurology·2024

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A familial, telomere-to-telomere reference for human de novo mutation and recombination from a four-generation pedigree.

bioRxiv : the preprint server for biology·2024

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Complete sequencing of ape genomes.

bioRxiv : the preprint server for biology·2024

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Independent expansion, selection, and hypervariability of the TBC1D3 gene family in humans.

Genome research·2024

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Visual and auditory attention in individuals with DYRK1A and SCN2A disruptive variants.

Autism research : official journal of the International Society for Autism Research·2024

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Integrated lipidomic and transcriptomic profiling of the host response in human malaria.

Genome biology·2026

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Centromeric satellite expansion drives genome evolution in the snowy owl.

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Mapping the landscape of allele-specific expression in porcine genomes.

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Genomic sequence evolution underlying human neocortical interareal diversification.

Genome biology·2026

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Regulatory mechanisms driven by functional 3'-UTR variants in alcohol use disorder and related traits.

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A longitudinal single-nucleus transcriptomic atlas of bovine placentation reveals dynamic cellular hierarchies and regulatory programs.

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Related Experiment Videos

The nature, pattern and function of human sequence variation

Related Concept Videos

<i>AGAP</i> duplicons associate with structural diversity at Chromosome 10q11.22.

Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder.

A familial, telomere-to-telomere reference for human <i>de novo</i> mutation and recombination from a four-generation pedigree.

Complete sequencing of ape genomes.

Independent expansion, selection, and hypervariability of the <i>TBC1D3</i> gene family in humans.

Visual and auditory attention in individuals with DYRK1A and SCN2A disruptive variants.

Integrated lipidomic and transcriptomic profiling of the host response in human malaria.

Centromeric satellite expansion drives genome evolution in the snowy owl.

Mapping the landscape of allele-specific expression in porcine genomes.

Genomic sequence evolution underlying human neocortical interareal diversification.

Regulatory mechanisms driven by functional 3'-UTR variants in alcohol use disorder and related traits.

A longitudinal single-nucleus transcriptomic atlas of bovine placentation reveals dynamic cellular hierarchies and regulatory programs.

Related Experiment Videos

The nature, pattern and function of human sequence variation

Related Concept Videos

Related Articles

<i>AGAP</i> duplicons associate with structural diversity at Chromosome 10q11.22.

Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder.

A familial, telomere-to-telomere reference for human <i>de novo</i> mutation and recombination from a four-generation pedigree.

Complete sequencing of ape genomes.

Independent expansion, selection, and hypervariability of the <i>TBC1D3</i> gene family in humans.

Visual and auditory attention in individuals with DYRK1A and SCN2A disruptive variants.

Integrated lipidomic and transcriptomic profiling of the host response in human malaria.

Centromeric satellite expansion drives genome evolution in the snowy owl.

Mapping the landscape of allele-specific expression in porcine genomes.

Genomic sequence evolution underlying human neocortical interareal diversification.

Regulatory mechanisms driven by functional 3'-UTR variants in alcohol use disorder and related traits.

A longitudinal single-nucleus transcriptomic atlas of bovine placentation reveals dynamic cellular hierarchies and regulatory programs.