Exome Sequencing News and Research

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Researchers find link between mutations in TRAF7 gene and multisystem disorder

Researchers find link between mutations in TRAF7 gene and multisystem disorder

Study suggests state-of-the-art genomic testing for routine autopsy of stillbirths

Study suggests state-of-the-art genomic testing for routine autopsy of stillbirths

Study reveals new genetic causes of non-syndromic cleft lip and palate

Study reveals new genetic causes of non-syndromic cleft lip and palate

Scientists identify new inherited neurodevelopmental disease

Scientists identify new inherited neurodevelopmental disease

Are you and your primary care doc ready to talk about your DNA?

Are you and your primary care doc ready to talk about your DNA?

Researchers identify six genes that predispose carriers to develop medulloblastoma

Researchers identify six genes that predispose carriers to develop medulloblastoma

Blood biopsies may offer more comprehensive genetic information than bone marrow tests, shows research

Blood biopsies may offer more comprehensive genetic information than bone marrow tests, shows research

Zika virus can be used for treating aggressive human central nervous system tumors, shows study

Zika virus can be used for treating aggressive human central nervous system tumors, shows study

Researchers discover new information related to rare form of leukemia

Researchers discover new information related to rare form of leukemia

Briefing note examines ethical issues in whole genome sequencing of babies

Briefing note examines ethical issues in whole genome sequencing of babies

Researchers uncover cause of rare childhood neurodegenerative disease

Researchers uncover cause of rare childhood neurodegenerative disease

Researchers discover 'missing mutation' in severe infant epilepsy

Researchers discover 'missing mutation' in severe infant epilepsy

Genetic heart mutations account for fewer sudden and unexplained infant deaths

Genetic heart mutations account for fewer sudden and unexplained infant deaths

Novel genetic mutations may explain link between high HDL cholesterol and reduced heart disease risk

Novel genetic mutations may explain link between high HDL cholesterol and reduced heart disease risk

Higher susceptibility of some babies to Zika virus has a genetic origin, study shows

Higher susceptibility of some babies to Zika virus has a genetic origin, study shows

Researchers use epigenetic signatures to advance diagnosis for neurodevelopmental disorders

Researchers use epigenetic signatures to advance diagnosis for neurodevelopmental disorders

Pretreatment improves outcomes in high-risk stage 3 melanoma, study shows

Pretreatment improves outcomes in high-risk stage 3 melanoma, study shows

Regeneron forms consortium to accelerate largest widely-available human sequencing resource

Regeneron forms consortium to accelerate largest widely-available human sequencing resource

Study provides insight into how early-stage breast cancer progresses to invasive ductal carcinoma

Study provides insight into how early-stage breast cancer progresses to invasive ductal carcinoma

DNA sequencing could identify genetic cause of kidney disease

DNA sequencing could identify genetic cause of kidney disease

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