Tag: <span>genomic variants</span>

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Sequencing technique searches for complex genomic variants to provide accurate diagnosis within hours
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Sequencing technique searches for complex genomic variants to provide accurate diagnosis within hours

JULY 23, 2024 by King Abdullah University of Science and Technology The KAUST-developed technology uses simple molecular biology strategies to seek out the genomic regions that are suspected of harboring complex mutations, deletions or rearrangements. Credit: 2024 KAUST.Despite rapid advances in genetic testing in recent decades, more than half of people worldwide with suspected Mendelian...

New approach successfully traces genomic variants back to genetic disorders
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New approach successfully traces genomic variants back to genetic disorders

by NIH/National Human Genome Research Institute National Institutes of Health researchers have published an assessment of 13 studies that took a genotype-first approach to patient care. Credit: Julia Fekecs, NHGRI National Institutes of Health researchers have published an assessment of 13 studies that took a genotype-first approach to patient care. This approach contrasts with the typical phenotype-first approach to...