4075 results for "*geneti*"

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• Elucidation of male-specific genetic regulation through multi-layered omics analysis

  We performed single-cell RNA-sequencing of peripheral blood mononuclear cells from asthma patients and single-cell multiome (RNA+ATAC) profiling from COVID-19 patients.

  Study JGAS000862

• GeDi Bulk RNA-seq from undifferentiated and differentiated cell types

  The Jackson Laboratory Genetic Discovery (GeDi) Human Induced Pluripotent Stem Cell (hiPSC) Resource provides a collection of well-characterized clonal hiPSC lines derived from genetically diverse, healthy male and female donors. These lines and their associated genomic and transcriptomic data are made available for unrestricted academic and commercial research. The initial release includes eight hiPSC lines with whole-genome sequencing, DNA methylation, RNA-seq, and genotyping data, with additional lines and data types to follow. This resource enables studies of how human genetic background and sex influence molecular phenotypes, differentiation potential, and drug responses.

  Study EGAS50000001988

• GeDi DoveTail/HiC

  The Jackson Laboratory Genetic Discovery (GeDi) Human Induced Pluripotent Stem Cell (hiPSC) Resource provides a collection of well-characterized clonal hiPSC lines derived from genetically diverse, healthy male and female donors. These lines and their associated genomic and transcriptomic data are made available for unrestricted academic and commercial research. The initial release includes eight hiPSC lines with whole-genome sequencing, DNA methylation, RNA-seq, and genotyping data, with additional lines and data types to follow. This resource enables studies of how human genetic background and sex influence molecular phenotypes, differentiation potential, and drug responses.

  Study EGAS50000001990

• GeDi Longread PacBio sequencing

  The Jackson Laboratory Genetic Discovery (GeDi) Human Induced Pluripotent Stem Cell (hiPSC) Resource provides a collection of well-characterized clonal hiPSC lines derived from genetically diverse, healthy male and female donors. These lines and their associated genomic and transcriptomic data are made available for unrestricted academic and commercial research. The initial release includes eight hiPSC lines with whole-genome sequencing, DNA methylation, RNA-seq, and genotyping data, with additional lines and data types to follow. This resource enables studies of how human genetic background and sex influence molecular phenotypes, differentiation potential, and drug responses.

  Study EGAS50000001986

• GeDi Oxford Nanopore sequencing

  The Jackson Laboratory Genetic Discovery (GeDi) Human Induced Pluripotent Stem Cell (hiPSC) Resource provides a collection of well-characterized clonal hiPSC lines derived from genetically diverse, healthy male and female donors. These lines and their associated genomic and transcriptomic data are made available for unrestricted academic and commercial research. The initial release includes eight hiPSC lines with whole-genome sequencing, DNA methylation, RNA-seq, and genotyping data, with additional lines and data types to follow. This resource enables studies of how human genetic background and sex influence molecular phenotypes, differentiation potential, and drug responses.

  Study EGAS50000001987

• GeDi Short-read genomic processed data through DRAGEN

  The Jackson Laboratory Genetic Discovery (GeDi) Human Induced Pluripotent Stem Cell (hiPSC) Resource provides a collection of well-characterized clonal hiPSC lines derived from genetically diverse, healthy male and female donors. These lines and their associated genomic and transcriptomic data are made available for unrestricted academic and commercial research. The initial release includes eight hiPSC lines with whole-genome sequencing, DNA methylation, RNA-seq, and genotyping data, with additional lines and data types to follow. This resource enables studies of how human genetic background and sex influence molecular phenotypes, differentiation potential, and drug responses.

  Study EGAS50000001989

• A rare CTSC mutation in Papillon-Lefèvre Syndrome

  Papillon-Lefèvre Syndrome (PLS) is an autosomal recessive monogenic disease caused by loss-of-function mutations in the CTSC gene. In this study we performed whole genome sequencing on two siblings, with the PLS-typical symptoms. After sequencing the CTSC gene was analyzed to confirm the PLS diagnosis genetically.

  Study EGAS00001005040

• Genome-wide data from Agta hunter-gatherers in Philippines

  To investigate the relationship between host genetics and the oral microbiome composition of Agta hunter-gatherers from the Philippines, we genotyped the Agta population (hunter-gatherers from Philippines) together with BaYaka (hunter-gatherers from Congo) and Palanan farmers (neighbouring population of the Agta).

  Study EGAS00001005315

• Genome-wide Rare Variant Score Associates With Morphological Subtypes of Autism Spectrum Disorder

  Defining different genetic subtypes of Autism Spectrum Disorder (ASD) can help predict developmental outcomes. Based on minor physical and major congenital anomalies, we categorized 325 Canadian children with ASD into dysmorphic and non-dysmorphic subgroupings. We developed a method to calculate a genome-wide rare variant score (GRVS) from whole-genome sequencing (WGS) data for each ASD proband. GRVS is a sum of the number of variants in morphology-associated coding and non-coding regions, weighted by their effect sizes. Probands with dysmorphic ASD had a significantly higher GRVS compared to those with non-dysmorphic ASD (P= 0.027). Using the polygenic transmission disequilibrium test, we observed an over-transmission of ASD-associated common variants in non-dysmorphic ASD probands (P= 2.9×10-3). We replicated our findings using 442 ASD probands that had accompanying morphology data in the Simons Simplex Collection. Our findings provide support for an alternative genomic classification of ASD subgroups using morphology data, which may inform intervention protocols.

  Study EGAS00001005753

• Genome-wide genotype data for 1,433 ni-Vanuatu

  Here, we generated genome-wide genotype data for 1,433 contemporary ni-Vanuatu and assessed their fine-scale genetic structure, in order to address central questions about the settlement of western Remote Oceania.

  Study EGAS00001005910