Exome Sequencing News and Research

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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

A novel gene involved in primary lymphedema identified

A novel gene involved in primary lymphedema identified

New computational methods help find genetic causes of severe childhood brain disorders

New computational methods help find genetic causes of severe childhood brain disorders

Researchers identify shared molecular roots between lipid dysfunction and autism

Researchers identify shared molecular roots between lipid dysfunction and autism

Genomic sequencing falls short as a standalone screening tool for newborns

Genomic sequencing falls short as a standalone screening tool for newborns

Quantum cryptographic communications technology can provide safe, secure data transmission in genomic medicine

Quantum cryptographic communications technology can provide safe, secure data transmission in genomic medicine

Study provides new insights into how ovarian cancer grows and evolves

Study provides new insights into how ovarian cancer grows and evolves

Penn researchers identify genetic driver of Charcot-Marie-Tooth disease

Penn researchers identify genetic driver of Charcot-Marie-Tooth disease

Experts use genomic analysis tools to create personalized treatment for kidney cancer patients

Experts use genomic analysis tools to create personalized treatment for kidney cancer patients

Ashion's GEM ExTra assay receives Medicare coverage

Ashion's GEM ExTra assay receives Medicare coverage

Untargeted metabolomics can determine genetic variant to improve patient diagnosis

Untargeted metabolomics can determine genetic variant to improve patient diagnosis

Researchers identify a novel mutation through whole-exome sequencing

Researchers identify a novel mutation through whole-exome sequencing

St. Jude scientists create O-PDX models for pediatric brain tumor research

St. Jude scientists create O-PDX models for pediatric brain tumor research

Methods to move precision medicine from evaluation into practice and policy

Methods to move precision medicine from evaluation into practice and policy

Boston Children's Hospital launches two-pronged study of COVID-19 in children

Boston Children's Hospital launches two-pronged study of COVID-19 in children