Genomic Sequencing News and Research

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Disruption of FOXA2 expression in congenital hyperinsulinism: The role of chromosome 20p11.2 deletions

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24 Aug 2023

Complete Genomics Garners the Prestigious 2023 R&D 100 Awards for Cutting-Edge Innovation

SAN JOSE, CALIFORNIA, 23 August, 2023- Complete Genomics, Inc., a pioneering genomic sequencing company, today proudly received the honor of the R&D 100 Awards from R&D World Magazine, often referred to as the “Oscars of Innovation”.

From BGI Genomics 24 Aug 2023

First complete sequences of multiple human Y chromosomes shed light on its evolution and biology

Highly challenging to sequence and long overlooked, the human Y chromosome's contributions to health and disease remain largely unknown.

23 Aug 2023

A pilot cohort study on infants with new-onset epilepsy examines the clinical utility of rapid genome sequencing

The clinical impact of rapid genome sequencing of infants with new-onset epilepsy.

22 Aug 2023

Study investigates the impact of rapid genome sequencing for infantile epilepsy

Epilepsy in infants ranges in severity and can leave caregivers with questions about their child's health. While genetic testing to help determine the cause of epilepsy is possible, comprehensive testing does not always happen routinely and it can take a long time, leaving families waiting for answers.

17 Aug 2023

Study evaluates differences in humoral immune response against SARS-CoV-2 in infants versus mothers

Researchers comparatively evaluated humoral immune responses against severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) among infants and their mothers.

16 Aug 2023

Genomic sequencing: A key tool for responding to pandemics

Many of the answers for effectively responding to a pathogen lie in its genome.

1 Aug 2023

The hidden factors of resistance: how pathogen diversity drives antibiotic response

Researchers aimed to understand the role of within-host microbial diversity on antimicrobial resistance.

14 Jul 2023

Whole genome sequencing shows promise for early diagnosis of genetic disorders in newborns, infants

A new national study, led by researchers at Tufts Medical Center in Boston, has found whole genome sequencing (WGS) to be nearly twice as effective as a targeted gene sequencing test at identifying abnormalities responsible for genetic disorders in newborns and infants.

11 Jul 2023

Researchers identify Paenibacillus bacteria as responsible for postinfectious hydrocephalus in Uganda

In 2007, Yale pediatric neurosurgeon Steven Schiff, MD, visited his friend, Benjamin Warf, MD, at the CURE Children's Hospital of Uganda.

20 Jun 2023

From COVID-19 to future threats: building a global genomic surveillance network

Researchers present a modular framework for global sustainable networks of viral genomic surveillance.

16 Jun 2023

Newborn genome sequencing project identifies unanticipated disease risks

Genomic sequencing of newborns reveals unanticipated genetic risks, prompting actionable medical interventions and potential life-saving care for infants and their families. This study highlights the value of comprehensive sequencing in newborns for early detection and management of genetic conditions.

7 Jun 2023

Large-scale comprehensive sequencing helps downstream medical care in newborns

Researchers who lead the world's first comprehensive sequencing program for newborn infants have published the next chapter in the ongoing study of the BabySeq Project, with new findings on infants and families who have been followed for 3-5 years.

6 Jun 2023

"Deep sequencing" of the genome informs diagnoses and treatment of vascular anomalies

Researchers from Children's Hospital of Philadelphia (CHOP) recently discovered that extremely thorough "deep sequencing" of the genome in tissue samples and cell-free DNA of patients with potentially life-threatening vascular anomalies captured several genetic variants related to disease that were not captured with conventional genetic sequencing methods.

1 Jun 2023

WHO chief: World must prepare for deadlier outbreak than COVID-19

The world should be prepared to respond to a disease outbreak of "even deadlier potential" than COVID-19, the head of the WHO said after the UN agency launched a global network to monitor disease threats.

23 May 2023

Efficient assay system aids rapid genetic diagnosis of mitochondrial diseases

The gene ECHS1 encodes for enoyl-CoA hydratase short-chain 1, a mitochondrial enzyme involved in branched-chain amino acid and fatty acid metabolism.

18 May 2023

The African Personalized Medicine Agenda

In this interview, Rizwana Mia, the Senior Program Manager at South African Medical Research Council, talks to News Medical about the African personalized medicine agenda.

From MGI 4 May 2023

Wildlife in Britain found free of SARS-CoV-2, but novel virus discovered in stoats

Scientists in the United Kingdom have conducted a large-scale screening for sarbecoviruses and pan-coronaviruses in British Wildlife to investigate the occurrence of widespread spillover events. They have identified a novel minacovirus in stoats recently introduced to the Orkney Islands.

3 May 2023

Genome-based surveillance offers new hope in the fight against healthcare-associated infections

Researchers discuss major healthcare-associated pathogens, as well as current and future public health priorities related to these microorganisms.

2 May 2023

Tracking SARS-CoV-2 Omicron variant XBB1.16

The World Health Organization recently named the SARS-CoV-2 Omicron variant XBB1.16 a variant of interest to encourage tracking of this genetic variant of the pandemic coronavirus.

28 Apr 2023