Whole Genome Sequencing News and Research

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New genetic links to coronary artery calcification uncovered, offering treatment insights

A study in Nature Cardiovascular Research identifies two new genetic loci associated with coronary artery calcification (CAC), a key indicator of atherosclerosis and coronary artery disease.

5 Dec 2023

UK Biobank unveils world's largest genetic data set

In a momentous landmark for medical research, UK Biobank has today [Thursday 30 November] unveiled incredible new data from whole genome sequencing of its half a million participants.

4 Dec 2023

UK Biobank data opens door to new era of precision medicine

In a momentous landmark for medical research, UK Biobank has today [Thursday 30 November] unveiled incredible new data from whole genome sequencing of its half a million participants.

29 Nov 2023

Research paves way for clinical trials of existing drugs for brain metastasis

The largest review of papers for brain cancer that has spread from the lungs has found abnormalities in the brain cancer and for which licensed drugs could be clinically trialled to find out if they could treat the disease.

29 Nov 2023

New study investigates role of rare gene variants in IBD risk for African Americans

The advent of whole genome sequencing technology has prompted an explosion in research into how genetics are associated with disease risk.

15 Nov 2023

One in five individuals taking nirmatrelvir-ritonavir therapy found to experience rebound COVID

A new study by investigators from Mass General Brigham found that one in five individuals taking Nirmatrelvir-ritonavir therapy, commonly known as Paxlovid, to treat severe symptoms of COVID-19, experienced a positive test result and shedding of live and potentially contagious virus following an initial recovery and negative test - a phenomenon known as virologic rebound.

13 Nov 2023

Tumor-immune interactions predict treatment responses in multiple myeloma

A multicenter study led by researchers at Sylvester Comprehensive Cancer Center at the University of Miami Miller School of Medicine shows how interactions between tumor cells and immune components of the microenvironment can impact treatment responses and outcomes in patients newly diagnosed with multiple myeloma who undergo combination treatments that include targeted immunotherapy.

9 Nov 2023

PacBio enables rare and inherited disease research by adding tertiary analysis partners to PacBio Compatible

Partnerships maximize value of HiFi data and complete the full end-to-end workflow for PacBio customers.

From PacBio 1 Nov 2023

PacBio announces Kinnex RNA Kits, further scaling HiFi Sequencing in Full-Length RNA, Single-Cell RNA and 16S rRNA applications

PacBio today announced it has begun taking orders for its groundbreaking Kinnex RNA kits, which increase throughput for full-length RNA, single-cell RNA, and 16S rRNA sequencing on PacBio’s long-read sequencing systems to enable large-scale studies at a resolution difficult to attain with short-read RNA sequencing.

From PacBio 1 Nov 2023

Unsupervised genome-wide variant effect predictor based on pretraining of DNA language models

The Genomic Pre-trained Network (GPN), a multispecies model developed to learn genome-wide variant effects.

31 Oct 2023

New omicron sublineages surge, but Pfizer-BioNTech bivalent booster retains effectiveness

The efficacy of the bivalent Pfizer-BioNTech COVID-19 messenger ribonucleic acid (mRNA) vaccine BNT162b2 BA.4/5.

30 Oct 2023

New blood test revolutionizes early cancer detection in Li-Fraumeni Syndrome patients

Canadian researchers develop a cell-free DNA-based multimodal assay for early cancer detection in patients with Li-Fraumeni Syndrome, a high-cancer-risk condition. The assay outperforms conventional methods, promising more sensitive and less invasive cancer surveillance.

29 Oct 2023

Meet Opentrons at ASHG 2023

Opentrons is a proud exhibitor at ASHG 2023, and we’re excited to be bringing our automation solutions to the conference.

From Opentrons 27 Oct 2023

Somatic mutations in the skin not responsible for the start or spread of psoriasis

Psoriasis - a chronic skin condition - is not caused or spread by spontaneous genetic mutations in the skin, new research suggests.

26 Oct 2023

Quick genetic test offers hope for sick, undiagnosed kids. but few insurers offer to pay.

Just 48 hours after her birth in a Seattle-area hospital in 2021, Layla Babayev was undergoing surgery for a bowel obstruction.

23 Oct 2023

Fighting tuberculosis: Breakthrough analysis reveals mixed strain infections

The drug-resistant genotypes in mixed strain infection (MSI) samples of Mycobacterium tuberculosis.

12 Oct 2023

PacBio Announces Complete Computational Workflow for Human Whole Genome Sequencing Data Analysis

PacBio (NASDAQ: PACB), a leading developer of high-quality, highly accurate sequencing solutions, today announced the availability of PacBio WGS Variant Pipeline – a complete, standardized computational method for HiFi whole genome sequencing (WGS) data analysis.

From PacBio 11 Oct 2023

Neonatal ICU mystery: Unraveling the secrets of the prevalent Staphylococcus strain

Researchers delve into the genomes of Staphylococcus capitis isolates prevalent in neonates, revealing transmission patterns and survival tactics of the NRCS-A strain in neonatal ICUs.

8 Oct 2023

CRISPR gene editing study provides insights into how autism gene affects brain development

Researchers have used CRISPR gene editing, stem cells and human neurons to study the impact of a gene that is commonly mutated in autism.

5 Oct 2023

Unlocking the code: BigRNA's deep learning model predicts RNA behavior

Researchers have developed BigRNA, a groundbreaking deep learning model capable of predicting RNA behavior, including tissue-specific expression and splicing, directly from genomic DNA sequences. The model excels in identifying pathogenic variants and could be a game-changer in the development of personalized RNA-based therapies for treating genetic diseases.

28 Sep 2023