Exome Sequencing News and Research

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Molecular autopsy of dried blood spots can identify underlying cause of sudden cardiac death in a young person

Molecular autopsy of dried blood spots can identify underlying cause of sudden cardiac death in a young person

Newly identified genetic mutation causes rare, early onset inflammatory bowel disease

Newly identified genetic mutation causes rare, early onset inflammatory bowel disease

Comprehensive genomic sequencing essential to capitalize precision medicine for pediatric cancer care

Comprehensive genomic sequencing essential to capitalize precision medicine for pediatric cancer care

Study uncovers mutations in Polycomb group gene as underlying cause of novel neurological disorder

Study uncovers mutations in Polycomb group gene as underlying cause of novel neurological disorder

New analysis links distinct patterns of genetic mutations with OCD

New analysis links distinct patterns of genetic mutations with OCD

Study provides treatment options for children with average risk medulloblastoma

Study provides treatment options for children with average risk medulloblastoma

Study: Lung squamous patients harboring druggable mutations have lower median overall survival

Study: Lung squamous patients harboring druggable mutations have lower median overall survival

Study reveals why intellectual disability risk for younger sib­lings is low

Study reveals why intellectual disability risk for younger sib­lings is low

Japanese–European scientists detect novel genetic mitochondrial disorder

Japanese–European scientists detect novel genetic mitochondrial disorder

Rare genetic variant may explain severe COVID-19 in young healthy male patients

Rare genetic variant may explain severe COVID-19 in young healthy male patients

Study uncovers mechanism that causes genetic movement disorder

Study uncovers mechanism that causes genetic movement disorder

Underrepresentation in genomic databases may affect therapy selection for minority patients

Underrepresentation in genomic databases may affect therapy selection for minority patients

Study investigates how genetic variants contribute to increased risk of lung cancer

Study investigates how genetic variants contribute to increased risk of lung cancer

Somatic gene mutations in brain cells could contribute to schizophrenia pathology

Somatic gene mutations in brain cells could contribute to schizophrenia pathology

Loss of functions in the PLD1 gene causes congenital heart disease

Loss of functions in the PLD1 gene causes congenital heart disease

New results challenge the current understanding of medulloblastoma

New results challenge the current understanding of medulloblastoma

Mosaic mutations during embryonic development can cause autism spectrum disorder

Mosaic mutations during embryonic development can cause autism spectrum disorder

Researchers detect novel IRAK4 mutations in infant with encephalitis and HHV6 reactivation

Researchers detect novel IRAK4 mutations in infant with encephalitis and HHV6 reactivation

Researchers discover more accurate technique to study gene responsible for innate immunity

Researchers discover more accurate technique to study gene responsible for innate immunity

Study highlights previously unknown mechanisms involved in myeloma resistance

Study highlights previously unknown mechanisms involved in myeloma resistance

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