MTCards

MTCards catalogs mitochondrial genome variants from whole-genome sequencing of 3,241 Chinese individuals to support analysis of mtDNA variation, haplogroups, heteroplasmy, purifying selection, and mtDNA copy-number correlations.

Key Features:

• Cohort and data source: Whole-genome sequencing (WGS) of 3,241 Chinese individuals underlies the database.
• Extensive Variant Cataloging: Identifies 3,892 mtDNA variants with 86% classified as rare.
• Purifying Selection Analysis: Reports mitochondrial dN/dS ratios significantly less than 1, higher dN/dS in heteroplasmies than in homoplasmies, and enrichment of indels and predicted deleterious variants in heteroplasmies.
• Haplogroup Frequency Distribution: Provides frequencies for major haplogroups M (20.27%), D (20.15%), B (18.51%), and F (16.45%) and notes variation in the number of variants per individual across haplogroups.
• mtDNA copy-number correlations: Documents a negative correlation between mtDNA copy number and age and a positive correlation with female sex.

Scientific Applications:

• Study of mitochondrial-related diseases: Enables analysis of mtDNA variants and predicted deleterious mutations relevant to disease etiology.
• Aging research: Supports investigation of heteroplasmy, purifying selection, and mtDNA copy-number changes with age.
• Population and evolutionary genetics: Facilitates exploration of haplogroup distributions, variant frequency spectra, and selection dynamics in the Chinese population.

Methodology:

Built from whole-genome sequencing (WGS) data of 3,241 individuals with identification and characterization of 3,892 mtDNA variants, dN/dS ratio analysis, classification of heteroplasmies versus homoplasmies, detection of indels and prediction of deleterious variants, haplogroup frequency calculation, and mtDNA copy-number estimation with correlation analyses.