First, the team searched for variants in just a single letter of the DNA code, called single nucleotide polymorphisms (SNPs), ...

Researchers conducted a study to determine if variations in the MTNR1A gene, specifically the MRNR1A variant (rs374152717), could be a genetic cause of idiopathic osteoporosis.

Researchers at ETH Zurich combined two CRISPR-Cas methods to decipher how mutations in a cell’s genome affect its function.

A collaborative study by researchers from Baylor College of Medicine and Illumina has showcased the exceptional capabilities of the DRAGEN (Dynamic Read Analysis for GENomics) platform in ...

MI Cancer Seek has received approval from the FDA as a companion diagnostic test to identify those who may benefit from ...

Symptoms typically appear after the age of 55. The researchers used an approach known as genome-wide association study (GWAS) to identify small genetic variations called single nucleotide variants ...

Whole genome sequence data were obtained from the TOPMed Freeze 9 dataset, which consists of over 160,000 samples and approximately 800 million single nucleotide variants. Only variants with at ...

Recent technological advances have enabled genome-wide single nucleotide polymorphism (SNP) association testing and copy number variant (CNV) identification. Several CNV loci have been identified ...

Caris said MI Cancer Seek will be used as a companion diagnostic to identify cancer patients who may benefit from treatment ...

In her portion of the presentation, Dr. Felton will highlight recent advances in using long-read RNA sequencing to detect ...