Human disease genomics: from variants to biology.

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2017 nî lūn-bûn

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2017年の論文

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2017年論文

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2017年論文

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2017年論文

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2017年論文

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2017年論文

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2017年论文

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2017年论文

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2017年论文

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name

Human disease genomics: from variants to biology.

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Human disease genomics: from variants to biology.

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type

Item

label

Human disease genomics: from variants to biology.

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Human disease genomics: from variants to biology.

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prefLabel

Human disease genomics: from variants to biology.

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Human disease genomics: from variants to biology.

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P1476

Human disease genomics: from variants to biology.

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P2093

Daniel G MacArthur

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P2860

Understanding rare and common diseases in the context of human evolution

New insights into the generation and role of de novo mutations in health and disease

Capture Hi-C identifies a novel causal gene, IL20RA, in the pan-autoimmune genetic susceptibility region 6q23

GNB5 mutation causes a novel neuropsychiatric disorder featuring attention deficit hyperactivity disorder, severely impaired language development and normal cognition

Rare and common epilepsies converge on a shared gene regulatory network providing opportunities for novel antiepileptic drug discovery.

Integrative analysis of genetic data sets reveals a shared innate immune component in autism spectrum disorder and its co-morbidities

Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort.

Integrated genome-wide analysis of expression quantitative trait loci aids interpretation of genomic association studies.

Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome.

An integrated genetic-epigenetic analysis of schizophrenia: evidence for co-localization of genetic associations and differential DNA methylation.

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10.1186/S13059-017-1160-Z

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Mark McCarthy

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2017-01-30T00:00:00Z

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