Exome Sequencing News and Research

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Scientists provide first report from the largest whole genome sequencing effort to date

Scientists at deCODE genetics a subsidiary of Amgen together with collaborators from Denmark report on the whole genome sequences of 150 thousand participants in the UK biobank in a paper published in the journal Nature today.

20 Jul 2022

Study illustrates how the use of whole exome sequencing can better predict treatment response

Immunotherapies, such as immune checkpoint inhibitors, have transformed the treatment of advanced stage cancers.

8 Jul 2022

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

A woman's risk of suffering one of the most common types of miscarriages can be predicted based on a specialized analysis of her genome, according to a Rutgers study.

14 Jun 2022

Mapping the Types and Traits of Immune Cells

In this interview, News-Medical speaks to two researchers each discussing their respective studies that have contributed to the Human Cell Atlas; Dr. Chenqu Suo and Dr. Cecilia Domínguez Conde from the Wellcome Sanger Institute.

30 May 2022

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

Acute lymphoblastic leukemia (ALL) cells from patients whose cancers did not respond to CD19-targeted CAR T therapy had gene regulation signatures that could potentially facilitate treatment resistance, according to results presented at the AACR Annual Meeting 2022, held April 8-13.

13 Apr 2022

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

News-Medical talks to Dr. Marlena Fejzo about a breakthrough in the understanding of hyperemesis gravidarum, and how it could improve maternal health around the world.

5 Apr 2022

Novel oncogenic gene fusions identified in lung and pancreatic cancer

A Yale Cancer Center research team has identified novel oncogenic gene fusions in lung and pancreatic cancer, as well as sarcoma.

16 Mar 2022

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

A new mutation was identified in 9 percent of relapsed cases of pediatric acute myeloid leukemia (AML) that may define a new subtype of the disease.

17 Feb 2022

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

Whole-exome sequencing and association analysis in nearly 7,000 Old Order Amish reveals a genetic variant that may confer protective effects against cardiovascular disease (CVD), researchers report.

2 Dec 2021

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

A group led by Prof. Han Dong of Peking University School of Stomatology reported for the first time hand preaxial polydactyly in patients with tooth agenesis carrying a previously unknown mutation of low-density lipoprotein receptor-related protein 6 (LRP6).

29 Nov 2021

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

Fabric Genomics and Rady Children's Institute for Genomic Medicine today announced the publication of a retrospective study in Genome Medicine showing that across six leading genomic centers and hospitals, researchers were able to detect more than 90% of disease-causing variants in infants with rare diseases using the Fabric GEM AI algorithm and whole-genome and whole-exome data from previously diagnosed newborns and rare disease patients at Rady Children's Hospital - San Diego and other clinical sites.

15 Oct 2021

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

Epilepsy is one of the most common chronic neurological diseases, affecting more than 50 million people worldwide. Although it is believed that a large proportion of childhood-onset epilepsies are caused by genetic changes, it remains unknown precisely how many of these patients suffer from a genetic disorder and how often the treatment can be targeted to their specific genetic alteration.

31 Aug 2021

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

The underlying cause of sudden cardiac death (SCD) in a young person is often difficult to identify. A genetic analysis could provide more information in many cases, but blood samples are not collected routinely at the time of death, and DNA extracted from the tissues collected at autopsy is damaged because of the way they are fixed in formalin and paraffin-embedded.

30 Aug 2021

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

Johns Hopkins Medicine researchers, in collaboration with national and international researchers, have identified a genetic mutation in a small number of children with a rare type of inflammatory bowel disease.

30 Jul 2021

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

St. Jude Children's Research Hospital investigators have demonstrated that comprehensive genomic sequencing of all pediatric cancer patients is feasible and essential to capitalize on the lifesaving potential of precision medicine.

26 Jul 2021

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

A multi-institutional study has discovered spontaneous mutations in RNF2 (RING2) gene as the underlying cause of a novel neurological disorder.

8 Jul 2021

New analysis links distinct patterns of genetic mutations with OCD

In the first analysis of its kind, researchers at Columbia University Vagelos College of Physicians and Surgeons and several other institutions have linked distinct patterns of genetic mutations with obsessive-compulsive disorder (OCD) in humans.

28 Jun 2021

Study provides treatment options for children with average risk medulloblastoma

Medulloblastoma is a rare but devastating childhood brain cancer. This cancer can spread through the spinal fluid and be deposited elsewhere in the brain or spine.

11 Jun 2021

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

Oncotarget published "Molecular characterization of lung squamous cell carcinoma tumors reveals therapeutically relevant alterations" which reported that unlike lung adenocarcinoma patients, there is no FDA-approved targeted-therapy likely to benefit lung squamous cell carcinoma patients.

3 Jun 2021

Study reveals why intellectual disability risk for younger siblings is low

Intellectual disability is most often caused by changes to the genome that take place in early fetal development and are not found in the parents’ DNA.

19 Apr 2021