Whole Genome Sequencing News and Research

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WHO issues an urgent call to accelerate access to genomics in resource-poor countries

The World Health Organization (WHO) has issued an urgent call to accelerate access to genomics, especially in resource-poor countries, in a report that examines technology gaps and opportunities.

15 Jul 2022

MINAR2 gene mutations cause progressive hearing loss

Researchers at the John T. Macdonald Department of Human Genetics and the John P. Hussman Institute for Human Genomics at the University of Miami Miller School of Medicine have found that inherited mutations in the MINAR2 gene caused deafness in four families. The gene variation mostly affects the inner ear hair cells, which are critical to hearing.

14 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

Roundworms shed light on vision loss in a rare human genetic disorder

In this interview, News-Medical speaks to Xinxing Zhang, a postdoctoral research fellow at the University of Michigan, about his research investigating vision loss in Bardet-Biedl syndrome.

4 Jul 2022

Rapid test can identify which variant has infected a COVID-19 patient in just a few hours

In just a few hours, UT Southwestern scientists can tell which variant has infected a COVID-19 patient – a critical task that can potentially influence treatment decisions but takes days or weeks at most medical centers.

30 Jun 2022

Inherited mutations in the MINAR2 gene lead to sensorineural deafness

Researchers at the John T. Macdonald Department of Human Genetics and John P. Hussman Institute for Human Genomics at the University of Miami Miller School of Medicine have found that inherited mutations in the MINAR2 gene caused deafness in four families.

23 Jun 2022

Whole-genome sequencing can help provide an accurate diagnosis of severely ill infants

Children who are born severely ill or who develop serious illness in the first few weeks of life are often difficult to diagnose, with considerable implications for their short and longer-term care.

13 Jun 2022

Researchers show the feasibility of a comprehensive sequencing approach in pediatric and young adult cancers

New findings from researchers at Memorial Sloan Kettering Cancer Center (MSK) and published today in the journal Nature Communications report the results of using a comprehensive sequencing approach on 114 pediatric, adolescent, and young adult patients with solid tumors.

18 May 2022

PerkinElmer expands genomic testing services with ultrarapid whole genome sequencing

PerkinElmer, Inc., a global leader committed to innovating for a healthier world, today announced the availability of ultrarapid whole genome sequencing (urWGS) through PerkinElmer Genomics.

From Revvity 17 May 2022

seqWell’s plexWell technology selected by California Conservation Genomics Project for conservation genomics research

seqWell, a global provider of next-generation sequencing library technologies based on its proprietary plexWell™ multiplexing platform, today announced a partnership with California Conservation Genomics Project.

10 May 2022

Insight into Neurological Diagnosis in Children

In this interview, we speak to Amy Brin, MSN, MA, PCNS-BC, CEO of the Child Neurology Foundation, about the current landscape of neurological diagnosis in children and the importance of helping patients and their families through the diagnosis and treatment process.

6 May 2022

Evaluating the findings of phase 3 clinical trial of plant-based COVID-19 vaccine

A new study has presented the safety and efficacy profiles of a plant-based adjuvanted coronavirus disease 2019 (COVID-19) vaccine in human participants.

5 May 2022

Genetic cause of lupus identified

An international team of researchers has identified DNA mutations in a gene that senses viral RNA, as a cause of the autoimmune disease lupus, with the finding paving the way for the development of new treatments.

27 Apr 2022

Researchers identify five types of bacteria in men with aggressive prostate cancer

Researchers at the University of East Anglia have found a link between bacteria and aggressive forms of prostate cancer.

25 Apr 2022

Discovering Genetic Variants that Significantly Predispose People to Critical COVID-19

We speak with postdoctoral researcher Erola Pairo-Castineira about her recent work which aimed to find the genetic factors that may predispose individuals to critical COVID-19 and learn how COVID-19 affects cells in the body.

22 Apr 2022

DNA analysis of tumors uncovers a 'treasure trove' of clues about the causes of cancer

DNA analysis of thousands of tumors from NHS patients has found a 'treasure trove' of clues about the causes of cancer, with genetic mutations providing a personal history of the damage and repair processes each patient has been through.

21 Apr 2022

CDC report on Omicron infections soon after Delta

A new study identifies ten patients with confirmed SARS-CoV-2 Omicron variant infections within 90 days of a previous Delta variant infection.

10 Apr 2022

Study finds better immunotherapy response in lung cancer patients with genetic variant linked to autoimmune disease

A variant of the CTLA-4 gene associated with autoimmune disease was found to be more frequent in non-small cell lung cancer (NSCLC) patients who experienced an exceptionally high response to anti-PD-1 immunotherapy and higher immune-related side effects than in a comparable cohort of lung cancer patients and healthy individuals, according to data presented during the AACR Annual Meeting 2022, held April 8-13.

10 Apr 2022

TLR7 and MARK1 genomic variants impact COVID-19 prognosis

Researchers conduct a massive exome-wide genome study to explore the connections between gene variants/deleterious mutations and COVID-19 outcomes.

3 Apr 2022

Drug-resistant, pathogenic yeasts found on surfaces of apples and other fruits

When they're prepared for transport, apples and other fruits are often treated with a fungicide to prevent spoilage and extend shelf life.

31 Mar 2022