Exome Sequencing News and Research

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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

Inherited genetic tendency appears to protect people from MRSA infections

Inherited genetic tendency appears to protect people from MRSA infections

Largest ever study looks at genetic sequences of people with epilepsy

Largest ever study looks at genetic sequences of people with epilepsy

Unique genetic history of Finnish people offers clues to disease

Unique genetic history of Finnish people offers clues to disease

Researchers identify brain somatic mutations linked to Alzheimer's disease

Researchers identify brain somatic mutations linked to Alzheimer's disease

Gene mutation discovery leads to novel treatment for patient with severe lymphatic condition

Gene mutation discovery leads to novel treatment for patient with severe lymphatic condition

Scientists pinpoint cause of fatal respiratory disorder that turns babies' lips and skin blue

Scientists pinpoint cause of fatal respiratory disorder that turns babies' lips and skin blue

Augusta vision scientist receives grant to learn more about keratoconus’ causes and treatments

Augusta vision scientist receives grant to learn more about keratoconus’ causes and treatments

Researchers one step closer to unmasking the cause of familial MS

Researchers one step closer to unmasking the cause of familial MS

Study identifies patterns of chronic lymphocytic leukemia growth

Study identifies patterns of chronic lymphocytic leukemia growth