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Q&A: Whole Genomes of 150,000 Britons Reveal Novel Genetic Variants
Q&A: Whole Genomes of 150,000 Britons Reveal Novel Genetic Variants
Height and onset of menarche are among traits linked to previously unidentified genetic variants in noncoding regions of the human genome.
Height and onset of menarche are among traits linked to previously unidentified genetic variants in noncoding regions of the human genome.
whole exome sequencing
Pioneering Geneticist C. Thomas Caskey Dies at 83
Natalia Mesa, PhD | Jan 28, 2022 | 3 min read
Caskey’s contributions to the field were instrumental to modern genetics.
Humans Can Survive Without Key Autophagy Gene
Annie Melchor | Jul 19, 2021 | 4 min read
Loss of the protein ATG7 is fatal in mice, but not always for people—although it is linked to human neurodevelopmental disorders, researchers report.
Mining Coding Regions with Whole-Exome Sequencing
The Scientist’s Creative Services Team | Nov 4, 2020 | 1 min read
Multiple next-generation sequencing (NGS) techniques offer insights into health and disease.
Clinical Exome Sequencing Tests Are Frequently Incomplete: Study
Kerry Grens | Jan 8, 2020 | 2 min read
A review of 36 individuals’ sequencing results performed by three US labs finds thousands of genes that were never fully sequenced to industry standards.
Researchers Analyze Epigenetic Signatures to Diagnose Rare Diseases
Katarina Zimmer | Mar 28, 2019 | 5 min read
A number of rare diseases show unique epigenetic patterns across the genome, a feature researchers have now exploited to build a diagnostic tool.