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chromosomal abnormalities

Venous Thromboembolism Risk Rise Reported in Individuals With Extra Sex Chromosomes

Researchers saw a significant uptick in VTE risk in individuals with supernumerary sex chromosome aneuploidies in both the Geisinger MyCode and UK Biobank cohorts.

Juno Diagnostics Lowers Barriers to Noninvasive Prenatal Testing With At-Home Sample Collection
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The Hazel assay uses finger prick amounts of blood, from which it immediately separates plasma that can be shipped at room temperature for chromosomal analysis.

Pan-Cancer Analyses Reveal Copy Number Signatures, Chromosomal Instability Patterns

Investigators identified up to 21 copy number signatures in cross-cancer analyses, including potential disease response markers and signatures linked to chromosomal instability features.

MSK Genomic Analysis Uncovers Features of Metastatic Cancer

Using data for more than 25,000 metastatic cancer patients, researchers retraced alterations associated with metastatic disease risk across cancer types and target sites.

Team Presents Optical Genome Mapping Method for Finding Chromosomal Alterations

In a pair of new studies, investigators retrospectively identified known chromosomal alterations in samples from individuals with hematological malignancies and other conditions.

Apr 14, 2021

Arcedi Biotech Introduces NIPT Analyzing DNA From Rare Fetal Cells in Maternal Blood
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Apr 13, 2021

CRISPR-Cas9 Genome Editing Can Lead to Extensive Chromosome Rearrangements

Oct 7, 2020

Prenatal Diagnosis Society Recommends cfDNA Screening for Autosomal Trisomies in Twin Pregnancies

Aug 17, 2020

ACOG Guidelines Recommend NIPT for All Pregnancies Regardless of Risk

Aug 17, 2020

Bionano Genomics Expecting Clinical Validation Studies to Drive Platform Adoption
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Nov 8, 2019

Some Call for Expanded Payor Coverage of NIPS but Reluctance Remains
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Aug 9, 2019

Illumina Begins Upgrading NIPT Customers to New Version of Test With Genome-Wide Options
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Mar 29, 2019

Prenatal Testing Decision Making Tied to Women's Aversion to Risk, Ambiguity

Nov 13, 2018

Angle to Enter NIPT Market With Rare Cell Isolation Platform
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Apr 5, 2018

Singlera to Use $60M Funding to Support Launch of IVDs, Research Into Very Early Detection of Cancer
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Mar 2, 2018

Mosaic Maternal Fragile Site Expansion Adds to List of Variants Causing False-Positive NIPT Results

Oct 11, 2017

Natera Validates Panorama NIPT for Twin Pregnancies; Includes Zygosity, Fetal Sex Determination
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Dec 21, 2016

Size-Based NIPT Approach Helps Clarify Origin of Subchromosomal Abnormalities
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Nov 22, 2016

NIH Awards Albert Einstein Scientist $7.5M to Study Genetics of Congenital Heart Abnormalities

Nov 2, 2016

Fetal Cell-Based Noninvasive Prenatal Testing Advances With Three New Feasibility Studies
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Jun 14, 2016

CombiMatrix Believes NGS Preimplantation Genetic Screening Test Will Attract New Customers
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Feb 26, 2016

Sequenom Publishes Clinical Validation of MaterniT Genome Test

Jan 28, 2016

Study Supports Use of Sequencing in Clinical Cytogenetics, Pathogenic CNV Detection

Jan 15, 2016

UK National Screening Committee Recommends NIPT Evaluation as Part of Existing Program

Dec 18, 2015

India's MedGenome Begins Offering Natera's Panorama NIPT

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The Scan

Cell Signaling Pathway Identified as Metastasis Suppressor

A new study in Nature homes in on the STING pathway as a suppressor of metastasis in a mouse model of lung cancer.

Using Bees to Gain Insights into Urban Microbiomes

As bees buzz around, they pick up debris that provides insight into the metagenome of their surroundings, researchers report in Environmental Microbiome.

Age, Genetic Risk Tied to Blood Lipid Changes in New Study

A study appearing in JAMA Network Open suggests strategies to address high lipid levels should focus on individuals with high genetic risk and at specific ages.

Study Examines Insights Gained by Adjunct Trio RNA Sequencing in Complex Pediatric Disease Cases

Researchers in AJHG explore the diagnostic utility of adding parent-child RNA-seq to genome sequencing in dozens of families with complex, undiagnosed genetic disease.