Exome Sequencing News and Research

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Study: Mutated ATRX gene may serve as much-needed biomarker for rare neuroendocrine tumors

Study: Mutated ATRX gene may serve as much-needed biomarker for rare neuroendocrine tumors

Researchers find genetic mutation that causes glycogen storage disease type IIIa in Inuit

Researchers find genetic mutation that causes glycogen storage disease type IIIa in Inuit

Scientists identify first genetic marker linked to severe neurological toxicity

Scientists identify first genetic marker linked to severe neurological toxicity

Single biopsy site may reveal all lung adenocarcinoma genetic mutations

Single biopsy site may reveal all lung adenocarcinoma genetic mutations

Tel Aviv University study throws spotlight on gene mutation responsible for premature ovarian failure

Tel Aviv University study throws spotlight on gene mutation responsible for premature ovarian failure

Researchers pinpoint rare gene mutations that increase risk of heart attack early in life

Researchers pinpoint rare gene mutations that increase risk of heart attack early in life

Baylor-led researchers identify gene linked to familial glioma

Baylor-led researchers identify gene linked to familial glioma

Scientists seek to improve stem cell transplant outcomes using DNA sequencing, mathematical modeling

Scientists seek to improve stem cell transplant outcomes using DNA sequencing, mathematical modeling

Exome sequencing refines 46,XY DSD diagnosis

Exome sequencing refines 46,XY DSD diagnosis

Researchers discover why only some patients respond to ipilimumab drug

Researchers discover why only some patients respond to ipilimumab drug

Genetic differences contribute to risk for autism

Genetic differences contribute to risk for autism

Scientists use innovative exome sequencing strategy to identify new gene associated with ALS

Scientists use innovative exome sequencing strategy to identify new gene associated with ALS

Cypher researchers identify new genetic cause of severe epileptic encephalopathy

Cypher researchers identify new genetic cause of severe epileptic encephalopathy

Whole exome sequencing can assist in early diagnosis of various disorders

Whole exome sequencing can assist in early diagnosis of various disorders

Study addresses the challenge of genomic heterogeneity

Study addresses the challenge of genomic heterogeneity

Scientists identify gene mutation that causes aplastic anemia

Scientists identify gene mutation that causes aplastic anemia

Changes in ADNP gene may provide further insight into causes of autism

Changes in ADNP gene may provide further insight into causes of autism

Deep sequencing technique opens up new possibilities for finding genetic causes for brain disorder

Deep sequencing technique opens up new possibilities for finding genetic causes for brain disorder

Genomics testing in action: an interview with Kevin Haar, CEO, Appistry

Genomics testing in action: an interview with Kevin Haar, CEO, Appistry

Exome sequencing improves diagnosis of mitochondrial disease

Exome sequencing improves diagnosis of mitochondrial disease

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