Exome Sequencing News and Research

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When genomic sequencing fails to diagnose a rare disease

When genomic sequencing fails to diagnose a rare disease

Mapping mutations in esophageal cancer could improve treatment options

Mapping mutations in esophageal cancer could improve treatment options

Genetic testing improves diagnoses of abnormalities in developing babies

Genetic testing improves diagnoses of abnormalities in developing babies

Researchers uncover first spontaneous animal model of human hypophosphatasia

Researchers uncover first spontaneous animal model of human hypophosphatasia

Scientists aim to find genetic causes of developmental abnormalities in the vagina and uterus

Scientists aim to find genetic causes of developmental abnormalities in the vagina and uterus

Genetic testing can help personalize diagnosis and treatment of kidney disease, study shows

Genetic testing can help personalize diagnosis and treatment of kidney disease, study shows

MUHC's 'Dr. House' discovers new genetic disease and the gene responsible for it

MUHC's 'Dr. House' discovers new genetic disease and the gene responsible for it

New York State approves NYGC's Whole Genome and Transcriptome Sequencing for oncology

New York State approves NYGC's Whole Genome and Transcriptome Sequencing for oncology

Gut protein mutations protect against spikes in blood glucose levels

Gut protein mutations protect against spikes in blood glucose levels

Researchers identify multisystem disorder caused by bi-allelic variants in CCDC47 gene

Researchers identify multisystem disorder caused by bi-allelic variants in CCDC47 gene

Small populations of normal T cells could modify disease severity in patients with XLP1

Small populations of normal T cells could modify disease severity in patients with XLP1

Tracking down microRNA candidates linked to disease

Tracking down microRNA candidates linked to disease

New genetic pathways associated with severe lung disease identified in extremely premature infants

New genetic pathways associated with severe lung disease identified in extremely premature infants

Expert proposes new model to generate automated updates of genetic test results

Expert proposes new model to generate automated updates of genetic test results

New project identifies immune checkpoint inhibition as potential treatment for angiosarcomas

New project identifies immune checkpoint inhibition as potential treatment for angiosarcomas

Brigham Genomic Medicine program unravels 30 medical mysteries

Brigham Genomic Medicine program unravels 30 medical mysteries

Pediatric researchers discover gene mutation that causes lymphatic disorder

Pediatric researchers discover gene mutation that causes lymphatic disorder

Blood-based test accurately identifies lung cancer patients who could benefit from immunotherapies

Blood-based test accurately identifies lung cancer patients who could benefit from immunotherapies

CHOP experts identify new autoimmune disorder along with personalized treatment for young patient

CHOP experts identify new autoimmune disorder along with personalized treatment for young patient

Researchers find link between mutations in TRAF7 gene and multisystem disorder

Researchers find link between mutations in TRAF7 gene and multisystem disorder