Extending noninvasive prenatal screening to all 24 human chromosomes can detect genetic disorders that may explain miscarriage and abnormalities during pregnancy, according to a study by researchers at the National Institutes ...
Aug 30, 2017
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801
For the past 17 years, most scientists around the globe have been using the nucleic acid sequence, or genome, an assembly of DNA information, from primarily a single individual as a kind of "baseline" reference and human ...
Nov 19, 2018
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259
A study of 2,377 children with autism, their parents and siblings has revealed novel insights into the genetics of the condition.
May 12, 2015
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265
A study shows, for the first time, that epigenetic defects in the human genome are widespread, and occur at hundreds of genes known to cause genetic diseases.
Sep 15, 2020
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600
UT Southwestern Medical Center researchers have identified hundreds of genomic variants associated with autism spectrum disorder (ASD) in East African families who have a markedly higher prevalence of the neurodevelopmental ...
May 22, 2023
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56
A new study has found that genes cause about 1 in 10 cases of chronic kidney disease in adults, and identifying the responsible gene has a direct impact on treatment for most of these patients.
Dec 26, 2018
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573
Genetically speaking, we are individuals different from each other because of slight variations in our DNA sequences—so-called genetic variants—some of which have dramatic effects we can see and comprehend, from the color ...
Sep 15, 2023
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84
Australian researchers have discovered a new neurodevelopmental disorder after uncovering its link to a tumor suppressor gene.
Apr 7, 2022
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56
When researchers say they have sequenced the human genome, there is a caveat to this statement: a lot of the human genome is sequenced and assembled, but there are regions that are full of repetitive elements, making them ...
Feb 7, 2019
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176
Scientists at Sylvester Comprehensive Cancer Center at the University of Miami Miller School of Medicine have illuminated how treatments for multiple myeloma and other aggressive blood cancers can lead to future malignancies, ...
Jan 26, 2023
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