Exome Sequencing News and Research

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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

Researchers investigate NOTCH1 mutations in keratinocyte lines derived from OSCC biopsies

Researchers investigate NOTCH1 mutations in keratinocyte lines derived from OSCC biopsies

Zebrafish study supports accuracy of CRISPR-Cas9 gene editing tool

Zebrafish study supports accuracy of CRISPR-Cas9 gene editing tool

Genetic mutation of APOE gene may provide protection against Alzheimer's disease

Genetic mutation of APOE gene may provide protection against Alzheimer's disease

Study reveals novel druggable driver gene in human gastrointestinal stromal tumors

Study reveals novel druggable driver gene in human gastrointestinal stromal tumors

Yale scientists build powerful genomic research platform to study cervical cancer

Yale scientists build powerful genomic research platform to study cervical cancer

Researchers identify gene mutation that causes musculoskeletal problems in children

Researchers identify gene mutation that causes musculoskeletal problems in children

Higher levels of genetic mutations linked to improved outcomes in lung cancer patients

Higher levels of genetic mutations linked to improved outcomes in lung cancer patients