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ASHG Report Highlights Functional, Economic Impact of Human Genetics and Genomics

The report, published this week, details the impact of human genetics and genomics on human health, drug development, and the economy, among other things.

Researchers Turn Methylated DNA Profiling Method Towards Prenatal Testing Applications
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At the ASHG 2020 virtual meeting, researchers presented data showing they could use the method to enrich for placental DNA in maternal plasma samples.

Epilepsy Exomes From Epi25 Project Lead to Mutation-Intolerant Gene Regions
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Rare variants turned up across epilepsy cases but appeared to be more common in mutation-intolerant gene regions in individuals with the most severe epilepsy subtype.

Qatar Genome Programme Team Begins Characterizing Transcriptome-Level Variation in Population
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Genes in immune-related pathways were among those flagged when researchers used RNA sequencing on blood samples to look at functional genetic features in the population.

Identity-by-Descent Analysis Uncovers Rare Variant Associations in UK Biobank
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Data presented at the ASHG virtual meeting highlighted the population insights that can be gleaned from IDB profiles in populations, including loci linked to blood traits.

Oct 30, 2020

ESHG, ACMG Differ Starkly in Recommendations for Reporting Secondary Findings From Genomic Tests
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Oct 29, 2020

Transcriptomics Data Suggest Existing Drugs Could Inhibit SARS-CoV-2
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Oct 29, 2020

Dozens of Introduction Events Sparked SARS-CoV-2 Spread in Oregon, Sequence Data Suggests
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Oct 29, 2020

De Novo, Inherited Autism Risk Factors Uncovered With SPARK Cohort Analysis
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Oct 29, 2020

COVID-19 Human Genetic Studies Presented at ASHG Point to Disease Susceptibility, Severity Loci

Oct 28, 2020

Illumina's ExpansionHunter Software Shows Clinical Promise for STR Expansions
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Oct 28, 2020

Finnish Population Genomics Study Uncovers Rare, Recessive Disease Candidates
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Oct 28, 2020

'Genotype-First' Study Leads to Blood Cell Mutations Underlying Severe Autoinflammatory Disease
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Oct 27, 2020

SickKids' 'Rigorous' Molecular Analysis IDs Targetable Alterations, Cancer Susceptibility Mutations
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Oct 18, 2019

10x Genomics Describes Capabilities of Visium Spatial Genomics Product Ahead of Release
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Oct 18, 2019

Selecting Human Embryos for Height, IQ Based on Polygenic Scores Won't Work Well, Study Suggests

Oct 17, 2019

Variant Detection Gets Boost From Graph Genomes, De Novo Assemblies
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Oct 16, 2019

Large-Scale Schizophrenia Exome Sequencing Study Identifies New Risk Genes

Apr 12, 2019

ASHG Launches Program to Increase Diversity in Genetics Research Workforce

Apr 4, 2019

ASHG Issues Research Recontact Guidelines in New Position Statement

Oct 31, 2018

Genomic Screening Can ID Actionable Variants but Implementation Poses Challenges
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Oct 22, 2018

ASHG: Dutch Nationwide NIPT Implementation Study Sees 42 Percent Uptake After First Year

Oct 22, 2018

ASHG: High Polygenic Risk Score for Heart Disease Motivates Patients to Make Lifestyle Changes

Oct 21, 2018

ASHG: RNA Sequencing Can Improve Diagnostic Yield of Exome, Genome Tests

Oct 19, 2018

ASHG: Australian Newborn WES Project Combines Hearing Loss Dx With Optional Secondary Results

Breaking News
The Scan

Missed Early Cases

A retrospective analysis of blood samples suggests early SARS-CoV-2 infections may have been missed in the US, the New York Times reports.

Limited Journal Editor Diversity

A survey finds low diversity among scientific and medical journal editors, according to The Scientist.

How Much of a Threat?

Science writes that need for a provision aimed at shoring up genomic data security within a new US bill is being questioned.

PNAS Papers on Historic Helicobacter Spread, Brain Development, C. difficile RNAs

In PNAS this week: Helicobacter genetic diversity gives insight into human migrations, gene expression patterns of brain development, and more.