Whole Genome Sequencing News and Research

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New insights into the genetics underlying autism spectrum

At The Hospital for Sick Children (SickKids), scientists have untangled new genes and genetic changes linked to autism spectrum disorder (ASD) in the biggest autism whole genome sequencing analysis so far.

14 Nov 2022

Multidisciplinary analysis of WGS improves diagnostic rates

The NHS Genomic Medicine Service, launched by the Department of Health in the United Kingdom in 2018, enables patients with unusual conditions to have their complete genetic code evaluated in the hopes of gaining a critical diagnosis.

From University College London 8 Nov 2022

Genetic speciation method to make new hybrid species

The evolution of a new species by hybridization from two already described species without a change in chromosome number is very rare in the animal kingdom.

12 Oct 2022

Researchers face challenges with stem cell lines that carry major DNA damage

Stem cells are a type of cell that can be configured to transform into almost any sort of cell in the body. They are presently used in research on organ development as well as in the initial phases of embryo development.

15 Aug 2022

Researchers discover antibiotic resistance genes in M. tuberculosis

More than 10,000 different Mycobacterium tuberculosis bacteria isolated from 23 different countries were subjected to a thorough investigation, which uncovered new genes linked to resistance to 13 first- and second-line novel and repurposed medicines.

11 Aug 2022

Researchers propose a solution to delayed molecular diagnosis and therapy in childhood genetic diseases

Rady Children’s Institute for Genomic Medicine (RCIGM®) recently announced the publication in Nature Communications of research that describes and examines the efficiency of Genome-to-Treatment (GTRxTM), a computer-controlled, virtual disease management system that combines a quick Whole Genome Sequencing (rWGS®) diagnosis accomplished in 13.5 hours with a custom lab management information system and analysis pipeline.

28 Jul 2022

Researchers analyze eight assemblers on viral sequencing data

On actual viral next-generation sequencing data, a recent study compares and evaluates eight de novo genome assembly software tools.

22 Jul 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

Study shows how whole genome sequencing test reveals details about cancer growth

Professor Serena Nik-Zainal of Cambridge University Hospitals (CUH) and the University of Cambridge headed a group of scientists that analyzed the whole genetic make-up or whole-genome sequencing (WGS) of over 12,000 NHS cancer patients in the largest research of its type.

22 Apr 2022

NIH’s research program publishes genomic information of nearly 100,000 individuals

The National Institutes of Health’s All of Us Research Program currently has access to about 100,000 extremely varied whole genome sequences.

21 Mar 2022

Study provides insights into the biological mechanisms behind the severe form of COVID-19

A total of 16 novel genetic variations linked to severe Covid-19 have been discovered, including ones that affect blood coagulation, immunological response, and inflammation severity.

8 Mar 2022

Researchers conduct genome sequencing studies in children with in-born immunity disorders

The Sanford Children’s Genomic Medicine Consortium has ten hospitals collaborating for whole genome sequencing studies on patients with suspected inborn immunity disorders (IEI).

13 Jan 2022

Novel research sheds light on the genetic pathways underlying obesity

A new study has shed light on the genetic factors that underpin obesity.

13 Jan 2022

Study provides new insight into the genetics of severe schizophrenia

Columbia University researchers have determined that individuals who suffer from the most severe form of schizophrenia have a significantly higher number of rare mutations than more typical forms of the illness.

14 Dec 2021

Genomic changes in advanced tumors reveal interactions with treatment

A novel way to look at cancer treatment resistance offers the possibility for identifying genetic mechanisms involved and alternative treatment approaches.

17 Nov 2021

Researchers use DNA to track the genetic evolution, migration of chickpea

Scientists at the University of Saskatchewan are part of an international team that employed DNA to monitor the genetic evolution and migration of chickpea.

17 Nov 2021

Whole genome sequencing reveals chickpea's pan-genome

An international team of researchers from 41 organizations has assembled chickpea's pan-genome by sequencing the genomes of 3,366 chickpea lines from 60 countries.

11 Nov 2021

Whole genome sequencing for children with cancer provides accurate diagnosis

According to a new study, revealing the entire genetic code for each child diagnosed with cancer could unravel new treatment options.

10 Nov 2021

CHOP-led network aims to unlock the genetic mysteries behind pediatric brain tumors

Unlocking the genetic mysteries behind pediatric brain tumors is at the heart of the mission of the Center for Data Driven Discovery in Biomedicine (D3b) at Children's Hospital of Philadelphia.

3 Nov 2021

AI-powered tool rapidly identifies genetic causes of rare disorders with high accuracy

An artificial intelligence (AI)-based technology rapidly diagnoses rare disorders in critically ill children with high accuracy, according to a report by scientists from University of Utah Health and Fabric Genomics, collaborators on a study led by Rady Children's Hospital in San Diego. The benchmark finding, published in Genomic Medicine, foreshadows the next phase of medicine, where technology helps clinicians quickly determine the root cause of disease so they can give patients the right treatment sooner.

From The University of Utah 18 Oct 2021