SNP genotyping
Fetal Exome Sequencing Studies Point to Noninvasive Prenatal Screening Applications
New research suggests trio exome sequencing on parental DNA samples and cell-free DNA from maternal plasma can successfully uncover clinically relevant fetal variants.
Ancient Genetic Study Examines Diversity Patterns to Explore Status in Mongolian Empire
Researchers saw high genetic diversity among individuals from the Xiongnu Empire, though individuals buried at royal sites harbored lower genetic variation.
Pan-Cancer Analyses Reveal Copy Number Signatures, Chromosomal Instability Patterns
Investigators identified up to 21 copy number signatures in cross-cancer analyses, including potential disease response markers and signatures linked to chromosomal instability features.
Study Points to Pathways, Conditions Influenced by 'Sex-Heterogeneous SNPs'
Researchers identified thousands of sex-heterogeneous SNPs on autosomal chromosomes, along with their ties to particular pathways, conditions, or parts of the genome.
Genetics of Cardiometabolic Traits Informed by Predicted Gene Expression Across Ancestries
The researchers, who used data from the UK Biobank and PAGE, noted, though, that models from more closely matched populations would likely have improved accuracy.