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Tag: whole-genome sequencing

June 2020
A genome data set shows colorful clusters by ancestry
News / Toolbox

Massive genomic database helps decode mutations’ effects

by  /  24 June 2020

A trove of DNA sequences from 141,456 people — and counting — offers an unparalleled look at genetic variation.

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May 2020
Human brain with prefrontal cortex highlighted.
News

DNA differences may shape gene expression in the brain before birth

by  /  7 May 2020

Many genes in a brain region implicated in autism change expression patterns in late fetal development, depending on differences in neighboring DNA.

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February 2020
a pattern shows a helix-like form repeating in yellow on dark background.
News / Toolbox

Machine learning flags ‘mosaic’ mutations that may contribute to autism

by  /  19 February 2020

A new technique detects rare mutations that occur in only a subset of the body’s cells.

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January 2020
Diagram statistics
News

Analysis of sequences pegs 102 top autism genes

by  /  24 January 2020

The number of top autism genes has risen from 65 to 102, based on an analysis of more than 35,000 sequences. And researchers are seeing the first hints of autism risk variants in the regions between genes.

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December 2019
Large genome sequence in blues and purple
News / Toolbox

Human reference genome gains global diversity

by  /  6 December 2019

A new reference genome includes sequences collected from people around the globe, plugging major gaps in the current one.

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October 2019
DNA
News

Rapid assay flags autism mutations in regions that flank genes

by  /  21 October 2019

Researchers have identified mutations within regulatory regions that are likely to contribute to autism, using a speedy system of DNA ‘barcodes.’

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September 2019
colorful micrograph of cells dividing
News

Whole-genome study lifts veil on inheritance patterns in autism

by  /  19 September 2019

An analysis of whole-genome sequences from nearly 500 families has implicated 16 new genes in autism.

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August 2019
woman behind a 'curtain' of genome sequence
Features / Deep Dive

The problems with prenatal testing for autism

by  /  14 August 2019

As prenatal testing improves, it presents a host of thorny issues — from what to test and how to interpret the results, to what to do about them.

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May 2019
Artists interpretation of machine learning and genes
News

Mutations between genes, long overlooked, may be key in autism

by  /  27 May 2019

Spontaneous mutations that occur between genes may be as important in autism as those within genes.

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Computational Modeling of BRSK2 Missense Variants
News

Matchmaking site for genes leads scientists to autism candidate

by  /  6 May 2019

A website called GeneMatcher has helped researchers identify a new gene for intellectual disability, developmental delay and autism.

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