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CNVs

CNV-Adjusted Analysis Points to Prognostically Informative Meningioma Methylation Groups

DNA methylation profiles and other genomic data for more than 550 meningioma tumors helped researchers identify epigenetic subgroups with prognostic features.

Study Finds Copy Number Variant Ties to Complex Human Traits

Data for 331,522 UK Biobank participants helped link CNVs to dozens of complex human traits and uncover pleiotropic, heterogeneous, and polygenic CNV effects.

Oncocyte Details New Expansions Plans With Growing Portfolio of Acquired Tests
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The company plans to transition its DetermaIO test from research to clinical use and to launch a new research product for immunotherapy monitoring by the end of this year.

Mosaic Enhancer Mutations, CNVs Contribute to Risk of Developing Autism

Two new studies of people with autism spectrum disorder indicate that mosaic mutations and copy number variants contribute to a person's risk for the condition.

CNV Analyses May Uncover Mendelian Conditions in Undiagnosed Pediatric Patients

Investigators diagnosed additional Mendelian conditions with copy number variant analyses on pediatric patients who remained undiagnosed after exome sequencing.

Sep 17, 2020

Adrenal Neuroblastoma Cell Features Found by Single-Cell Transcriptome Sequencing

Sep 15, 2020

Pancreatic Cancer Treatment Clues Uncovered From Genomic, Chromatin Profiles

Jun 5, 2020

University of Utah Spinout Eigengene Developing Genome-Wide Signatures for Cancer Diagnostics
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May 27, 2020

WUSTL-led Team Compiles Human Structural Variant Resource

Apr 30, 2020

Treatment Clues Gleaned From Molecular Features in Rare Kidney Cancer Type

Mar 23, 2020

Lung Cancer Brain Metastasis Genomes Marked by Recurrent Amplifications, Deletions

Jan 31, 2020

Copy Number Variants May Influence Clinical Presentation Among Individuals with PTEN Mutations

Jan 16, 2020

Rare CNVs Associated With Major Disease Categories in Large Study of European Subjects

Jan 8, 2020

Novel Duplication Uncovered in Amish Individuals Explains Exercise-Associated Sudden Death

Nov 21, 2019

Extrachromosomal Oncogene Amplification Involves Rearrangement of Regulatory Elements

Nov 13, 2019

ACMG, ClinGen Publish Recommendations for Interpretation, Reporting of CNVs

Oct 17, 2019

Selection Analysis Suggests Modern Melanesians Carry Adaptive Archaic Hominin CNVs

Sep 27, 2019

Euformatics, UK Quality Assessment Organizations Expand Partnership to Include CNV Data

Sep 18, 2019

Mission Bio Aims to Grow Single-Cell Genomics Market Share With CNV Analysis, Custom Panels
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Apr 17, 2019

Non-Small Cell Lung Cancer Mutations, Tumor Microenvironment Profiled in China

Apr 15, 2019

Maternal Cancer Detection From Noninvasive Prenatal Screening Results Improved by Algorithm

Jan 24, 2019

Memorial Sloan Kettering Using Cerebral Spinal Fluid Liquid Biopsy, Sequencing to Track Glioma Evolution
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Jan 16, 2019

Population Size May Enable Cancer Cell to Avoid Mutational Meltdown

Dec 18, 2018

Cancer Genetic Studies Explore Prognostic Value of Copy Number Alterations, Other Biomarkers
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Dec 17, 2018

Autism, Developmental Delay Gene Candidates Compiled From De Novo Variant, CNV Data

Breaking News
The Scan

UK Moves to Allow Sale of Gene-Edited Food

The UK is moving ahead to allow the sale of gene-edited food in England, Scotland, and Wales, according to New Scientist.

Questions for the Field

Stat News writes that the alleged Buffalo shooter's citation of genetics research raises questions about what the field can do.

Cell Studies on Tumor Evolution in Mouse Model of Lung Cancer, Stereo-seq, Bacteriophage Responses

In Cell this week: tumor evolution tracked in mouse model of lung cancer, organogenesis mapped using Stereo-seq, and more.

Taking Stock of the Stockpile

The US and European countries are evaluating their smallpox vaccine stockpiles as the number of monkeypox cases increases, the Washington Post reports.