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Spectrum: Autism Research News

Tag: exome

August 2022
Illustration of two chromosomes with copy number variants.

‘Dosage sensitivity map’ predicts active ingredients in copy number variants

by  /  31 August 2022

The catalog of rare copy number variants tied to autism and other conditions could help researchers identify which genes account for the mutations’ effects.

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Conceptual illustration of a DNA double helix

Scans of sundry variant types uncover autism-linked genes

by  /  18 August 2022

Troves of sequencing data reveal genes tied to autism through different variant types, providing a more complete picture of the condition’s genetic roots and new clues to its heterogeneity.

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August 2021
Young patient speaking to counselor.

Q&A with Brenda Finucane: Building pipelines for genetic tests for autism

by  /  17 August 2021

Most autistic people do not receive the medically recommended genetic tests for autism. Brenda Finucane and her colleagues want to change that.

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December 2020
White lab mouse sitting in a gloved hand.

Notable papers in autism research, 2020

by  /  23 December 2020

Gene therapies and the factors influencing autism traits top Spectrum’s list of the 10 most notable research findings we covered in 2020.

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Stylized DNA molecule

Mutations in the same exon linked to similar autism traits

by  /  17 December 2020

People with autism who carry DNA variants in the same protein-coding region of a gene have more similar cognitive abilities and behaviors than those who carry mutations in different regions of the same gene.

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Cells transporting NCKAP1 protein in and out of nucleus

Rare variants tied to neuronal migration, autism traits

by  /  4 December 2020

Many people with mutations in the NCKAP1 gene have autism or autism traits, according to a new study spanning seven countries.

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November 2020
Group of DNA helixes are seen on black

Analysis combining variants, conditions uncovers hundreds of neurodevelopmental genes

by  /  2 November 2020

The first genetic analysis of multiple types of variants from people with autism or other neurodevelopmental conditions reveals hundreds of genes that may be linked to neurodevelopment.

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October 2020

Reactions from ASHG 2020

by  /  30 October 2020

Get the inside scoop from the 2020 American Society of Human Genetics annual meeting.

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August 2020
Fat in bloodstream visualized as yellow balls, floating near blood cells, macro view.

Blood lipid levels may be altered in some autistic people

by  /  10 August 2020

About 6.5 percent of autistic people in the United States also have dyslipidemia, a condition characterized by abnormal lipids levels in the blood.

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Young child on her bed looking at a book.

Studies unravel diversity of traits tied to chromosome 16 mutations

by  /  3 August 2020

Two new analyses help to explain why mutations to the chromosomal region 16p11.2 can lead to autism, intellectual disability or language difficulties.

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