Exome Sequencing News and Research

RSS
Coimbra Pediatric Hospital selects Congenica's Sapientia software platform for In2Genome project

Coimbra Pediatric Hospital selects Congenica's Sapientia software platform for In2Genome project

Novel, ultra-rare damaging genetic variants may contribute to eating disorders

Novel, ultra-rare damaging genetic variants may contribute to eating disorders

St. Jude creates world’s largest collection of pediatric solid tumor samples

St. Jude creates world’s largest collection of pediatric solid tumor samples

PerkinElmer introduces affordable clinical genomics services

PerkinElmer introduces affordable clinical genomics services

Expert outlines pros and cons of ordering various genetic tests

Expert outlines pros and cons of ordering various genetic tests

Mutations arising after conception may play vital role in autism

Mutations arising after conception may play vital role in autism

CHOP researchers pinpoint WDR26 haploinsufficiency as cause for rare genetic syndrome

CHOP researchers pinpoint WDR26 haploinsufficiency as cause for rare genetic syndrome

Study: Personalized neoantigen vaccine stimulates strong anti-tumor response in melanoma patients

Study: Personalized neoantigen vaccine stimulates strong anti-tumor response in melanoma patients

Proteins impeding antitumor immunity could be 'Achilles heel' of some cancers

Proteins impeding antitumor immunity could be 'Achilles heel' of some cancers

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