Exome Sequencing News and Research

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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

Researchers develop online resource to refine results from RNA sequencing

Researchers develop online resource to refine results from RNA sequencing

Study reveals the effects of pre-surgical chemotherapy on breast cancer genome

Study reveals the effects of pre-surgical chemotherapy on breast cancer genome

Scientists create world’s first model of pituitary disease using human iPS cells

Scientists create world’s first model of pituitary disease using human iPS cells

Largest genome study sheds light on how genetic glitches trigger tumor formation

Largest genome study sheds light on how genetic glitches trigger tumor formation

'Innovative Research Award' helps CU scientists to explore BRAF inhibition resistance in brain cancer

'Innovative Research Award' helps CU scientists to explore BRAF inhibition resistance in brain cancer

New ACMG Points to Consider document on use of fetal exome sequencing in prenatal care

New ACMG Points to Consider document on use of fetal exome sequencing in prenatal care

Some genetic sequencing misses out large parts of the genome

Some genetic sequencing misses out large parts of the genome

Whole exome sequencing routinely fails to adequately analyze large segments of DNA

Whole exome sequencing routinely fails to adequately analyze large segments of DNA

DNA tests to provide rapid diagnosis of rare diseases in critically ill infants

DNA tests to provide rapid diagnosis of rare diseases in critically ill infants