Exome Sequencing News and Research

RSS

Researchers identify multiple genes and rare variants linked with Crohn's disease susceptibility

An international consortium of researchers has identified genetic variants in 10 genes that elevate a person's susceptibility to Crohn's disease, a form of inflammatory bowel disease.

29 Aug 2022

Mount Sinai and Regeneron Genetics Center launch a new human genome sequencing research project

Mount Sinai Health System and the Icahn School of Medicine at Mount Sinai have launched a new human genome sequencing research project called the Mount Sinai Million Health Discoveries Program with the Regeneron Genetics Center (RGC), part of the industry-leading, New York-based biotechnology company Regeneron.

12 Aug 2022

Serbia's genome center monitors potential virus mutations to facilitate more effective COVID-19 control

In partnership with BGI Genomics from China, Serbia's first genome sequencing center, opened in December 2021, is monitoring potential virus mutations to facilitate more effective COVID-19 control and accelerating access to genomics to enhance health outcomes.

9 Aug 2022

Researchers uncover genomic characteristics of breast cancers associated with PTEN hamartoma tumor syndrome

Cleveland Clinic researchers have uncovered genomic characteristics of breast cancers associated with PTEN hamartoma tumor syndrome (PHTS) that differentiate them from sporadic breast cancers.

4 Aug 2022

Study identifies pivotal role of FIBCD1 gene in neurodevelopmental disorders

A multidisciplinary study led by Vanja Nagy (LBI-RUD/CeMM/Medical University of Vienna) and Josef Penninger (UBC/IMBA) characterized a novel gene, known as FIBCD1, to be likely causative of a new and rare neurodevelopmental disorder.

2 Aug 2022

Researchers assess UK biobank genome sequences

In a new study, researchers analyzed 150,119 genome sequences from the United Kingdom Biobank (UKB).

26 Jul 2022

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