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mutation detection

DNA 'Damagenome' May Provide Disease Clues, Study Suggests

Investigators used a new approach for detecting spontaneous DNA damage, highlighting high-damage genes and functional pathways with potential disease ties.

Guardant Health Targets Emerging Treatment Response Market With New ctDNA Product
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The firm announced the new test, Guardant360 Response, alongside its launch of its Guardant360 TissueNext tumor tissue genomic profiling product.

OncoDiag Taking Aim at Broader Adoption of Molecular Multiplex Test for Bladder Cancer Recurrence
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On the back of a recently announced $3 million in funding, the firm has begun marketing its Urodiag kit to urologists throughout Europe.

At AGBT, Two Labs Share SARS-CoV-2 Genomic Surveillance Experience
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The Wellcome Sanger Institute and the BC Centre for Disease Control Public Health Lab have been using viral sequencing to follow the spread of variants of concern.

Agena Rolls out Seq-It SARS-CoV-2 Variant Panel Globally for Use on MassArray System
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The assay is being positioned as an alternative to next-generation sequencing-based approaches, which its creators view as ponderous and pricey.

Jan 27, 2021

Small Cell Lung Cancer Study Uncovers Disease-Associated Germline Mutations

Jan 13, 2021

Autism Spectrum Disorder Study Finds Contribution From De Novo Tandem Repeat Mutations

Jan 11, 2021

Multi-Cancer Molecular Screening Assays Primed for Clinical Implementation in 2021
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Jan 7, 2021

Identical Twins Have Non-Identical Genomes, Study Finds

Jan 7, 2021

Clear Labs, Integrated DNA Technologies Expand Partnership to Include COVID-19 Testing

Dec 9, 2020

Appendiceal Cancer Sequences Suggest Distinct Mutation Patterns in Early-, Late-Onset Cases

Nov 25, 2020

Recurrent SARS-CoV-2 Virus Mutations Do Not Increase Transmissibility, Study Finds

Nov 23, 2020

Broad Institute DepMap Project Could Lead to Development of New Cancer Drugs
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Nov 18, 2020

MSK Study Suggests Germline Tests May Miss Mosaic Cancer Risk Mutations in Some Patients
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Oct 29, 2020

Single-Cell Analysis Elucidates Mutation Patterns in Myeloid Malignancies

Oct 27, 2020

Clonal Hematopoiesis Mutation Study Reveals Risk of Treatment-Related Cancer

Oct 14, 2020

Developmental Disorder Study Identifies 28 Novel Disease Genes

Oct 7, 2020

Post-mortem Melanocyte Mutations Provide Melanoma Clues

Oct 1, 2020

Cancer Clues Gleaned from Somatic Mutation Patterns in Normal Bladders

Sep 15, 2020

Pancreatic Cancer Treatment Clues Uncovered From Genomic, Chromatin Profiles

Jul 21, 2020

Inflammatory Bowel Disease Study Points to Role For Somatic Colon Mutations

Jun 9, 2020

Glioblastoma Genomes Point to Non-Coding Driver Mutations

May 26, 2020

Colorectal Cancer Study Reveals Tumor Mutation, Immune Microenvironment Relationships

Apr 23, 2020

Agilent, Mission Bio Ink Comarketing Agreement for Single-Cell Platform

Apr 16, 2020

Human Tumor Atlas Network Team Shares Strategy for Tracking Tumor Transitions

Breaking News
The Scan

Interfering With Invasive Mussels

The Chicago Tribune reports that researchers are studying whether RNA interference- or CRISPR-based approaches can combat invasive freshwater mussels.

Participation Analysis

A new study finds that women tend to participate less at scientific meetings but that some changes can lead to increased involvement, the Guardian reports.

Right Whales' Decline

A research study plans to use genetic analysis to gain insight into population decline among North American right whales, according to CBC.

Science Papers Tie Rare Mutations to Short Stature, Immunodeficiency; Present Single-Cell Transcriptomics Map

In Science this week: pair of mutations in one gene uncovered in brothers with short stature and immunodeficiency, and more.