Exome Sequencing News and Research

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One-step, off-the-shelf tool can help evaluate genetic cause of mitochondrial diseases

One-step, off-the-shelf tool can help evaluate genetic cause of mitochondrial diseases

Five genes hold key to meningioma make up

Five genes hold key to meningioma make up

Researchers to develop new diagnostic tools and treatments for people with rare diseases

Researchers to develop new diagnostic tools and treatments for people with rare diseases

Researchers pinpoint several inherited mutations in autism

Researchers pinpoint several inherited mutations in autism

Health, science and genetics reporters invited to register now for ACMG annual genetics meeting

Health, science and genetics reporters invited to register now for ACMG annual genetics meeting

‘PapGene’ test detects endometrial and ovarian cancers

‘PapGene’ test detects endometrial and ovarian cancers

JAMA column outlines need for frozen, larger specimens in DNA-sequencing era

JAMA column outlines need for frozen, larger specimens in DNA-sequencing era

Genomic technology revolutionizes gene discovery and disease understanding in autism

Genomic technology revolutionizes gene discovery and disease understanding in autism

Review describes current state of lung cancer care

Review describes current state of lung cancer care

Researchers discover new gene for susceptibility to Alzheimer's disease

Researchers discover new gene for susceptibility to Alzheimer's disease

Researchers sequence the DNA of 6,700 exomes of cystic fibrosis patients

Researchers sequence the DNA of 6,700 exomes of cystic fibrosis patients

Researchers identify genes linked to serous endometrial cancer

Researchers identify genes linked to serous endometrial cancer

RMND1 gene mutations responsible for severe neurodegenerative disorders

RMND1 gene mutations responsible for severe neurodegenerative disorders

New spontaneous genetic mutations play a significant role in schizophrenia

New spontaneous genetic mutations play a significant role in schizophrenia

Intellectual disability often results from genetic causes that are not inherited

Intellectual disability often results from genetic causes that are not inherited

BGI Tech achieves whole exome sequencing analysis of total degraded DNA from FFPE samples

BGI Tech achieves whole exome sequencing analysis of total degraded DNA from FFPE samples

MVK mutations linked to disseminated superficial actinic porokeratosis

MVK mutations linked to disseminated superficial actinic porokeratosis

BCAA supplementation may treat autism and/or epilepsy

BCAA supplementation may treat autism and/or epilepsy

Researchers discover gene mutations linked to spinocerebellar ataxia

Researchers discover gene mutations linked to spinocerebellar ataxia

Researchers isolate elusive human gene that causes NMNAT1-related Leber congenital amaurosis

Researchers isolate elusive human gene that causes NMNAT1-related Leber congenital amaurosis

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