Such studies would employ a dense map of single-nucleotide polymorphisms (SNPs) to detect association between a marker and disease based on LD between the marker and a disease-risk gene variant.
Subsequent whole genome sequencing identified two MICOS10 gene variants: a deletion in big exon 1 and a single nucleotide missense mutation that most likely accounted for the patient's symptoms.
During their analysis, the team identified 11 single nucleotide variants (SNVs) in the PAR2 regions of male chromosome X, which were mostly absent in females. The gender-specific distribution ...
Dana-Farber Cancer Institute research shows inherited genetic variants increase risk of certain paediatric cancers: Boston, Massachusetts Monday, January 6, 2025, 10:00 Hrs [IST] ...