Tag Archives: genes

Genotyping sequence-resolved copy number variation using pangenomes reveals paralog-specific global diversity and expression divergence of duplicated genes

Genotyping sequence-resolved copy number variation using pangenomes reveals paralog-specific global diversity and expression divergence of duplicated genes

Overview of the genotyping method We represent variation as haplotype segments that are short enough to minimize disruption by recombination, allowing precise sharing with an NGS sample through identity by descent23 while capturing structural information including phased small variation, structural variation and gene conversion events. We label these haplotype segments as pangenome-derived alleles (PAs) and detect PAs shared with an …

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Genes Linked to Cannabis Use Reveal Ties to Mental Health

Genes Linked to Cannabis Use Reveal Ties to Mental Health

Summary: Researchers analyzing data from over 130,000 participants have identified specific genes associated with cannabis use and its frequency, revealing strong links to psychiatric, cognitive, and physical health traits. The genes CADM2 and GRM3, already known for roles in brain communication and impulsivity, appear central to how individuals initiate and sustain cannabis use. The study also uncovered dozens of other …

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New therapy ‘fixes’ genes tied to brain disorders… reversing symptoms of debilitating diseases suffered by millions

New therapy ‘fixes’ genes tied to brain disorders… reversing symptoms of debilitating diseases suffered by millions

Scientists may be one step closer to a new therapy that could ‘fix’ the faulty genes at play in people with brain disorders such as autism and epilepsy. About a million people worldwide are thought to have a SYNGAP1-related disorder (SRD). This is a group of brain disorders that disrupt normal brain development and can lead to intellectual disability, epilepsy, movement …

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Women Have Twice as Many Depression Genes as Men, Says Largest-of-Its-Kind Study : ScienceAlert

Women Have Twice as Many Depression Genes as Men, Says Largest-of-Its-Kind Study : ScienceAlert

Women are genetically at higher risk of clinical depression than men, Australian researchers found in a study published Wednesday that could change how the disorder is treated. Billed as one of the largest-ever studies of its kind, scientists pored through the DNA of almost 200,000 people with depression to pinpoint shared genetic “flags”. Women had almost twice as many of …

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Features of autism can affect age of diagnosis – and so can genes

Features of autism can affect age of diagnosis – and so can genes

Children diagnosed with autism before the age of six tend to have different traits to those who are diagnosed later in life.Credit: Matt Roth for The Washington Post/Getty The age at which a person is diagnosed with autism is sometimes linked to their genetic make-up and their risk of developing mental-health conditions, according to an analysis of behavioural and genetic …

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Largest Study of Its Kind Reveals The Genes Behind Dyslexia : ScienceAlert

Largest Study of Its Kind Reveals The Genes Behind Dyslexia : ScienceAlert

A massive study involving genetic data from over 1.2 million people has identified over a dozen new gene regions associated with dyslexia. “We have produced the largest genetic study of dyslexia to date,” write the study authors, led by University of Edinburgh molecular geneticist Hayley Mountford. Dyslexia is a neurodevelopmental brain difference that can make certain aspects of modern life …

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She was the world’s oldest person, living to 117. What do her genes reveal about the secret of longevity?

She was the world’s oldest person, living to 117. What do her genes reveal about the secret of longevity?

When a supercentenarian, someone who is older than 110 years old, is interviewed, they are inevitably asked to share their tips for longevity. But what if their secret could be studied scientifically? What could their genome tell us about ageing and why they avoid the diseases that claim so many other people? If any secrets were uncovered, might they, perhaps, …

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what her genes and lifestyle tell us about longevity

what her genes and lifestyle tell us about longevity

Maria Branyas Morera had been verified as the oldest living person when she died last year at age 117.Credit: Xavier Dengra (Public Domain) Maria Branyas Morera lived to the age of 117 with a bit of genetic luck and a healthy diet that included daily yogurts, according to a study published today in Cell Reports Medicine1. During her final year …

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Humans inherited Neanderthal genes that limit our muscle activity

Humans inherited Neanderthal genes that limit our muscle activity

Most of us carry a small trace of Neanderthal ancestry and, in some cases, that legacy sits in our legs. A single change in a muscle enzyme can subtly throttle how hard muscles can work under pressure. People outside Africa typically carry about 2 percent Neanderthal DNA in their genomes, a result of ancient interbreeding between populations. That shared history …

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These scientists found Alzheimer’s in their genes. Here’s what they did next : Shots

These scientists found Alzheimer’s in their genes. Here’s what they did next : Shots

Three scientists learned they carry genes that significantly increase their risk for Alzheimer’s. Here’s how they’re grapping with the news, and working to keep their brains healthy. mohd izzuan/Getty Images hide caption toggle caption mohd izzuan/Getty Images People who inherit two copies of a gene variant called APOE4 have a 60% chance of developing Alzheimer’s by age 85. Only about …

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