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New mutation in MUC1 gene could be valuable biomarker for diagnosing kidney disease

New mutation in MUC1 gene could be valuable biomarker for diagnosing kidney disease

IDT and Illumina collaborate to provide improved solutions for next generation sequencing market

IDT and Illumina collaborate to provide improved solutions for next generation sequencing market

International consensus addresses research bottlenecks to diagnose rare genetic diseases

International consensus addresses research bottlenecks to diagnose rare genetic diseases

New mutation predisposes patients under osteoporosis treatment to atypical femur fractures, study finds

New mutation predisposes patients under osteoporosis treatment to atypical femur fractures, study finds

Whole-exome sequencing may routinely miss detecting some disease-causing genes, say researchers

Whole-exome sequencing may routinely miss detecting some disease-causing genes, say researchers

Researchers identify 26 novel genes linked to intellectual disability

Researchers identify 26 novel genes linked to intellectual disability

Genetic screening and counseling likely to benefit childhood cancer survivors, study suggests

Genetic screening and counseling likely to benefit childhood cancer survivors, study suggests

Study reveals link between rare NKPD1 gene and depressive symptoms

Study reveals link between rare NKPD1 gene and depressive symptoms

OTUD6B gene mutations linked to physical and intellectual deficits

OTUD6B gene mutations linked to physical and intellectual deficits

Genome sequencing approach opens door to therapy options for rare, neglected cancers

Genome sequencing approach opens door to therapy options for rare, neglected cancers

Study reveals novel mutations in mucosal melanoma that may pave way for new therapies

Study reveals novel mutations in mucosal melanoma that may pave way for new therapies

Researchers discover rare deafness-dystonia syndrome in a family in Pakistan

Researchers discover rare deafness-dystonia syndrome in a family in Pakistan

Fetal genomic sequencing could enhance detection rate of genetic findings, study shows

Fetal genomic sequencing could enhance detection rate of genetic findings, study shows

Linking human genome sequences to EHR information could influence clinical medicine, says expert

Linking human genome sequences to EHR information could influence clinical medicine, says expert

Scientists identify gene variants causing unrecognized developmental disorder

Scientists identify gene variants causing unrecognized developmental disorder

Scientists use unified analysis approach for diagnosing diseases with multiple genetic causes

Scientists use unified analysis approach for diagnosing diseases with multiple genetic causes

Nature Methods publishes comparative study of leading Protein-Protein Interaction Networks

Nature Methods publishes comparative study of leading Protein-Protein Interaction Networks

Recessive gene mutations could cause debilitating neurological disease in children

Recessive gene mutations could cause debilitating neurological disease in children

Chemotherapy leads to drug-resistance in bladder cancer patients

Chemotherapy leads to drug-resistance in bladder cancer patients

Penn researchers develop open-source software to infer evolutionary track of tumor metastasis

Penn researchers develop open-source software to infer evolutionary track of tumor metastasis