Mitochondrial DNA variation across 56,434 individuals in gnomAD
KM Laricchia, NJ Lake, NA Watts, M Shand… - Genome …, 2022 - genome.cshlp.org
Genomic databases of allele frequency are extremely helpful for evaluating clinical variants
of unknown significance; however, until now, databases such as the Genome Aggregation …
of unknown significance; however, until now, databases such as the Genome Aggregation …
Exon capture museomics deciphers the nine-banded armadillo species complex and identifies a new species endemic to the Guiana Shield
The nine-banded armadillo (Dasypus novemcinctus) is the most widespread xenarthran
species across the Americas. Recent studies have suggested it is composed of 4 …
species across the Americas. Recent studies have suggested it is composed of 4 …
A method for multiplexed full-length single-molecule sequencing of the human mitochondrial genome
I Keraite, P Becker, D Canevazzi, C Frias-López… - Nature …, 2022 - nature.com
Methods to reconstruct the mitochondrial DNA (mtDNA) sequence using short-read
sequencing come with an inherent bias due to amplification and mapping. They can fail to …
sequencing come with an inherent bias due to amplification and mapping. They can fail to …
Mitochondrial DNA in Human Diversity and Health: From the Golden Age to the Omics Era
CL Hernández - Genes, 2023 - mdpi.com
Mitochondrial DNA (mtDNA) is a small fraction of our hereditary material. However, this
molecule has had an overwhelming presence in scientific research for decades until the …
molecule has had an overwhelming presence in scientific research for decades until the …
Genome sequences of 36,000-to 37,000-year-old modern humans at Buran-Kaya III in Crimea
EA Bennett, O Parasayan, S Prat, S Péan… - Nature Ecology & …, 2023 - nature.com
Populations genetically related to present-day Europeans first appeared in Europe at some
point after 38,000–40,000 years ago, following a cold period of severe climatic disruption …
point after 38,000–40,000 years ago, following a cold period of severe climatic disruption …
Community-engaged ancient DNA project reveals diverse origins of 18th-century African descendants in Charleston, South Carolina
RE Fleskes, GS Cabana, JK Gilmore… - Proceedings of the …, 2023 - National Acad Sciences
In this study, we present the results of community-engaged ancient DNA research initiated
after the remains of 36 African-descended individuals dating to the late 18th century were …
after the remains of 36 African-descended individuals dating to the late 18th century were …
A bioinformatics pipeline for estimating mitochondrial DNA copy number and heteroplasmy levels from whole genome sequencing data
Mitochondrial diseases are a heterogeneous group of disorders that can be caused by
mutations in the nuclear or mitochondrial genome. Mitochondrial DNA (mtDNA) variants may …
mutations in the nuclear or mitochondrial genome. Mitochondrial DNA (mtDNA) variants may …
Mitochondrial DNA integrity and metabolome profile are preserved in the human induced pluripotent stem cell reference line KOLF2. 1J
Quality control of human induced pluripotent stem cells (iPSCs) is critical to ensure
reproducibility of research. Recently, KOLF2. 1J was characterized and published as a male …
reproducibility of research. Recently, KOLF2. 1J was characterized and published as a male …
Nuclear genetic control of mtDNA copy number and heteroplasmy in humans
Mitochondrial DNA (mtDNA) is a maternally inherited, high-copy-number genome required
for oxidative phosphorylation. Heteroplasmy refers to the presence of a mixture of mtDNA …
for oxidative phosphorylation. Heteroplasmy refers to the presence of a mixture of mtDNA …
Mitochondrial DNA heteroplasmy distinguishes disease manifestation in PINK1/PRKN-linked Parkinson's disease
Biallelic mutations in PINK1/PRKN cause recessive Parkinson's disease. Given the
established role of PINK1/Parkin in regulating mitochondrial dynamics, we explored …
established role of PINK1/Parkin in regulating mitochondrial dynamics, we explored …