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Tag: whole-genome sequencing

March 2021
A lone Rhesus macaque looks into the camera
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New macaque reference genome fills sequence gaps

by  /  4 March 2021

Researchers have created the most complete macaque reference genome to date and used it to catalog genetic variation among hundreds of monkeys.

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February 2021
News

Genetic variants in protein target sites may contribute to autism

by  /  12 February 2021

Mutations that disrupt binding sites in RNA molecules may play a role in autism and a variety of psychiatric conditions, according to a new study.

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January 2021
A mosaic made of different colors of maize (corn) kernels depicting DNA.
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Two studies highlight role of ‘mosaic’ mutations in autism

by  /  11 January 2021

Mutations seen in only some of the body’s cells often affect gene activity in the brains of people with autism, and can involve large segments of DNA, according to two new studies.

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Illustration shows the hands of researchers selecting parts of a DNA helix for secure shredding.
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‘Sanitizing’ functional genomics data may prevent privacy breaches

by  /  8 January 2021

A new technique for masking portions of raw genomic data increases shareability without sacrificing privacy.

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December 2020
stock image shows a color coded DNA sequence
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Catalog details sex differences in gene expression, regulation

by  /  2 December 2020

Researchers expand a massive repository of data on gene activity in people to show differences between males and females.

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October 2020
News

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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Black mother pushing her child on swing at playground.
News

First analysis of African autism cohort reveals millions of new variants

by  /  29 October 2020

Genome sequences from a research cohort of autistic African children and their families have revealed more than 4 million novel variants, some of which occur in genes not previously linked to the condition.

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September 2020
DNA helix inside the human body
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Autism genetics, explained

by  /  3 September 2020

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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August 2020
Genetic test showing repeats in DNA.
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Probe of DNA ‘repeats’ reveals new potential autism genes

by  /  10 August 2020

Repeating bits of the genome may be responsible for nearly 3 percent of the genetic architecture of autism.

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June 2020
A genome data set shows colorful clusters by ancestry
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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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