personalgenomics – Page 2 – Personal Genomics EN

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So far personalgenomics has created 18 blog entries.

Palmoplantar keratoderma and Charcot-Marie-Tooth disease: combination of two independent genetic diseases? Identification of two point mutations in the MPZ and KRT1 genes by whole-exome sequencing

Palmoplantar keratoderma and Charcot-Marie-Tooth disease: combination of two independent genetic [...]

Palmoplantar keratoderma and Charcot-Marie-Tooth disease: combination of two independent genetic diseases? Identification of two point mutations in the MPZ and KRT1 genes by whole-exome sequencingpersonalgenomics2022-07-25T11:15:44+02:00

Optimized pipeline of MuTect and GATK tools to improve the detection of somatic single nucleotide polymorphisms in whole-exome sequencing data

Optimized pipeline of MuTect and GATK tools to improve the [...]

Optimized pipeline of MuTect and GATK tools to improve the detection of somatic single nucleotide polymorphisms in whole-exome sequencing datapersonalgenomics2022-07-25T11:15:44+02:00

European Society of Human Genetics (ESHG)

European Society of Human Genetics (ESHG) European Human Genetics Conference. [...]

European Society of Human Genetics (ESHG)personalgenomics2022-07-25T11:15:44+02:00

SETD2 and histone H3 lysine 36 methylation deficiency in advanced systemic mastocytosis

SETD2 and histone H3 lysine 36 methylation deficiency in advanced [...]

SETD2 and histone H3 lysine 36 methylation deficiency in advanced systemic mastocytosispersonalgenomics2022-07-25T11:15:44+02:00

Physical Activity and Nutrition INfluences In ageing (PANINI): consortium mission statement

Physical Activity and Nutrition INfluences In ageing (PANINI): consortium mission [...]

Physical Activity and Nutrition INfluences In ageing (PANINI): consortium mission statementpersonalgenomics2022-07-25T11:15:44+02:00

On site DNA barcoding by nanopore sequencing

On site DNA barcoding by nanopore sequencing Biodiversity research is [...]

On site DNA barcoding by nanopore sequencingpersonalgenomics2022-07-25T11:15:44+02:00

Characterization of a new B-ALL cell line with constitutional defect of the Notch signaling pathway

Characterization of a new B-ALL cell line with constitutional defect [...]

Characterization of a new B-ALL cell line with constitutional defect of the Notch signaling pathwaypersonalgenomics2022-07-25T11:15:44+02:00

Centrosome Linker-induced Tetraploid Segregation Errors Link Rhabdoid Phenotypes and Lethal Colorectal Cancers.

Centrosome Linker-induced Tetraploid Segregation Errors Link Rhabdoid Phenotypes and Lethal [...]

Centrosome Linker-induced Tetraploid Segregation Errors Link Rhabdoid Phenotypes and Lethal Colorectal Cancers.personalgenomics2022-07-25T11:15:44+02:00