Somatic mutation, genomic variation, and neurological disease - Test2 - elhamkhani - TriplyDB

Somatic mutation, genomic variation, and neurological disease

Somatic mutation, genomic variation, and neurological disease

http://www.wikidata.org/entity/Q28395313

about

Single cell genomics: advances and future perspectives Novel bioinformatic developments for exome sequencing Definition and diagnostic criteria of sleep-related hypermotor epilepsy Cerebral cortex expansion and folding: what have we learned?Mechanisms underlying structural variant formation in genomic disorders A Dishful of a Troubled Mind: Induced Pluripotent Stem Cells in Psychiatric Research Current Therapeutic Options in Sturge-Weber Syndrome Genes, circuits, and precision therapies for autism and related neurodevelopmental disorders Genetic changes shaping the human brain Somatic mosaicism in the human genome Cell competition: how to eliminate your neighbours The neurogenetics of alternative splicing Getting into the brain: liposome-based strategies for effective drug delivery across the blood-brain barrier New insights into the generation and role of de novo mutations in health and disease Dynamic self-guiding analysis of Alzheimer's disease.Elevated germline mutation rate in teenage fathers Variations in brain DNA Mosaic epigenetic dysregulation of ectodermal cells in autism spectrum disorder The landscape of somatic mutations in protein coding genes in apparently benign human tissues carries signatures of relaxed purifying selection Patterns of somatically acquired amplifications and deletions in apparently normal tissues of ovarian cancer patients Additional mechanisms conferring genetic susceptibility to Alzheimer's disease Somatic mosaicism underlies X-linked acrogigantism syndrome in sporadic male subjects Postzygotic single-nucleotide mosaicisms in whole-genome sequences of clinically unremarkable individuals Exome-wide somatic microsatellite variation is altered in cells with DNA repair deficiencies Retrotransposition in tumors and brains Individualized medicine from prewomb to tomb The ageing genome, clonal mosaicism and chronic disease.Schizophrenia.Somatic Mutations in TSC1 and TSC2 Cause Focal Cortical Dysplasia.Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb.The Complete Genome Sequences, Unique Mutational Spectra, and Developmental Potency of Adult Neurons Revealed by Cloning.Single neuron transcriptome analysis can reveal more than cell type classification: Does it matter if every neuron is unique?In search of rare variants: preliminary results from whole genome sequencing of 1,325 individuals with psychophysiological endophenotypes.Dampened hippocampal oscillations and enhanced spindle activity in an asymptomatic model of developmental cortical malformations Reference-free SNP detection: dealing with the data deluge.SoloDel: a probabilistic model for detecting low-frequent somatic deletions from unmatched sequencing data.Copy number variation is a fundamental aspect of the placental genome.A pathogenic mosaic TP53 mutation in two germ layers detected by next generation sequencing.Variations in brain defects result from cellular mosaicism in the activation of heat shock signalling.MosaicHunter: accurate detection of postzygotic single-nucleotide mosaicism through next-generation sequencing of unpaired, trio, and paired samples.

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Somatic mutation, genomic variation, and neurological disease

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2013年の論文

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Somatic mutation, genomic variation, and neurological disease

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Somatic mutation, genomic variation, and neurological disease

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Annapurna Poduri

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Christopher A Walsh

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Gilad D Evrony

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Xuyu Cai

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Genomic variability within an organism exposes its cell lineage tree

Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

Detectable clonal mosaicism and its relationship to aging and cancer

A mosaic activating mutation in AKT1 associated with the Proteus syndrome

Evolution of the mutation rate

Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome

Direct measure of the de novo mutation rate in autism and schizophrenia cohorts

Mutation and cancer: statistical study of retinoblastoma

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA

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