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Tag: whole-exome sequencing

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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May 2021
DNA helix inside the human body

Autism genetics, explained

by  /  28 May 2021

The more scientists dig into DNA, the more intricate its contribution to autism seems to be. Here, we unravel the complex genetics of autism.

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Genes tied to autism, developmental delay, schizophrenia share functions

by  /  7 May 2021

Many genes linked to autism, schizophrenia and neurodevelopmental delay regulate gene expression and support communication between neurons.

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Computer screenshot showing bands of colour resulting from sequenced DNA.

Largest autism genetics analysis to date uncovers more high-confidence candidates

by  /  6 May 2021

The largest-yet study of genetic data from autistic people has identified 255 genes associated with the condition.

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March 2021
Brain made of DNA strands on a background of molecule shapes

There are no autism-specific genes, just brain genes

by ,  /  23 March 2021

There is not yet a single example of a gene that, when mutated, increases the likelihood of autism but not of other neurodevelopmental conditions, including intellectual disability.

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December 2020
Paper DNA with one torn base to signify a point mutation.

Analysis links 98 genes to neurodevelopmental conditions

by  /  10 December 2020

Genetic sequences from nearly 53,000 people with autism, developmental delay or intellectual disability reveal strong ties to 98 genes.

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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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September 2020
Colorful chart showing variants in chromosomes.

Scan of genomes for inherited variants lays bare new autism candidate

by  /  10 September 2020

Lowered expression of a gene called DDHD2 may increase a person’s likelihood of having autism, according to a new analysis.

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