Exome Sequencing News and Research

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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

UCLA Health collaborates with Regeneron Genetics Center to bring genomic medicine to patients

UCLA Health collaborates with Regeneron Genetics Center to bring genomic medicine to patients

COVID-19 hospitalizations and deaths skew towards older males of non-European ancestry

COVID-19 hospitalizations and deaths skew towards older males of non-European ancestry

Genetic mutation may accelerate heart function decline in DMD patients

Genetic mutation may accelerate heart function decline in DMD patients

Exome sequencing sheds light on genetic causes of nonimmune hydrops fetalis

Exome sequencing sheds light on genetic causes of nonimmune hydrops fetalis

Brain wiring genes may be linked to a significant portion of cerebral palsy cases

Brain wiring genes may be linked to a significant portion of cerebral palsy cases

People with one albinism gene mutation may be prone to pale-colored melanomas

People with one albinism gene mutation may be prone to pale-colored melanomas

New studies report specific mechanisms of impaired type I interferon signaling in COVID-19 patients

New studies report specific mechanisms of impaired type I interferon signaling in COVID-19 patients

Scientists identify new genetic cause of syndromic microcephaly

Scientists identify new genetic cause of syndromic microcephaly

Researchers identify specific potential therapeutic targets for aggressive form of pancreatic cancer

Researchers identify specific potential therapeutic targets for aggressive form of pancreatic cancer

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