Exome Sequencing News and Research

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Analysis of a woman's genome can help predict miscarriage risk and IVF failure

Analysis of a woman's genome can help predict miscarriage risk and IVF failure

Mapping the Types and Traits of Immune Cells

Mapping the Types and Traits of Immune Cells

Researchers identify certain gene regulation signatures in CAR T-resistant leukemia patients

Researchers identify certain gene regulation signatures in CAR T-resistant leukemia patients

Improving our understanding of a severe pregnancy sickness (Hyperemesis Gravidarum)

Improving our understanding of a severe pregnancy sickness (Hyperemesis Gravidarum)

Novel oncogenic gene fusions identified in lung and pancreatic cancer

Novel oncogenic gene fusions identified in lung and pancreatic cancer

New mutation may define a high-risk subtype of pediatric acute myeloid leukemia

New mutation may define a high-risk subtype of pediatric acute myeloid leukemia

Genetic variant found in Old Order Amish may confer protective effects against cardiovascular disease

Genetic variant found in Old Order Amish may confer protective effects against cardiovascular disease

New phenotype of LRP6 mutation reported for the first time in patients with tooth agenesis

New phenotype of LRP6 mutation reported for the first time in patients with tooth agenesis

AI algorithm accurately detects disease-causing variants in infants with rare diseases

AI algorithm accurately detects disease-causing variants in infants with rare diseases

Finding the genetic cause of childhood epilepsy helps improve treatment and care

Finding the genetic cause of childhood epilepsy helps improve treatment and care

Molecular autopsy of dried blood spots can identify underlying cause of sudden cardiac death in a young person

Molecular autopsy of dried blood spots can identify underlying cause of sudden cardiac death in a young person

Newly identified genetic mutation causes rare, early onset inflammatory bowel disease

Newly identified genetic mutation causes rare, early onset inflammatory bowel disease

Comprehensive genomic sequencing essential to capitalize precision medicine for pediatric cancer care

Comprehensive genomic sequencing essential to capitalize precision medicine for pediatric cancer care

Study uncovers mutations in Polycomb group gene as underlying cause of novel neurological disorder

Study uncovers mutations in Polycomb group gene as underlying cause of novel neurological disorder

New analysis links distinct patterns of genetic mutations with OCD

New analysis links distinct patterns of genetic mutations with OCD

Study provides treatment options for children with average risk medulloblastoma

Study provides treatment options for children with average risk medulloblastoma

Study: Lung squamous patients harboring druggable mutations have lower median overall survival

Study: Lung squamous patients harboring druggable mutations have lower median overall survival

Study reveals why intellectual disability risk for younger sib­lings is low

Study reveals why intellectual disability risk for younger sib­lings is low

Japanese–European scientists detect novel genetic mitochondrial disorder

Japanese–European scientists detect novel genetic mitochondrial disorder

Rare genetic variant may explain severe COVID-19 in young healthy male patients

Rare genetic variant may explain severe COVID-19 in young healthy male patients