Best practices for the interpretation and reporting of clinical whole genome sequencing
CA Austin-Tse, V Jobanputra, DL Perry, D Bick… - NPJ genomic …, 2022 - nature.com
Whole genome sequencing (WGS) shows promise as a first-tier diagnostic test for patients
with rare genetic disorders. However, standards addressing the definition and deployment …
with rare genetic disorders. However, standards addressing the definition and deployment …
Mitochondrial single-cell ATAC-seq for high-throughput multi-omic detection of mitochondrial genotypes and chromatin accessibility
Natural sequence variation within mitochondrial DNA (mtDNA) contributes to human
phenotypes and may serve as natural genetic markers in human cells for clonal and lineage …
phenotypes and may serve as natural genetic markers in human cells for clonal and lineage …
Haplogrep 3-an interactive haplogroup classification and analysis platform
Over the last decade, Haplogrep has become a standard tool for haplogroup classification in
the field of human mitochondrial DNA and is widely used by medical, forensic, and …
the field of human mitochondrial DNA and is widely used by medical, forensic, and …
Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture
Abstract Background The international Dog10K project aims to sequence and analyze
several thousand canine genomes. Incorporating 20× data from 1987 individuals, including …
several thousand canine genomes. Incorporating 20× data from 1987 individuals, including …
Deleterious heteroplasmic mitochondrial mutations are associated with an increased risk of overall and cancer-specific mortality
Mitochondria carry their own circular genome and disruption of the mitochondrial genome is
associated with various aging-related diseases. Unlike the nuclear genome, mitochondrial …
associated with various aging-related diseases. Unlike the nuclear genome, mitochondrial …
Prognostic genome and transcriptome signatures in colorectal cancers
Colorectal cancer is caused by a sequence of somatic genomic alterations affecting driver
genes in core cancer pathways. Here, to understand the functional and prognostic impact of …
genes in core cancer pathways. Here, to understand the functional and prognostic impact of …
Genomic testing in patients with kidney failure of an unknown cause: a national Australian study
AC Mallawaarachchi, L Fowles, L Wardrop… - Clinical Journal of the …, 2024 - journals.lww.com
Background The cause of kidney failure is unknown in approximately 10% of patients with
stage 5 chronic kidney disease (CKD). For those who first present to nephrology care with …
stage 5 chronic kidney disease (CKD). For those who first present to nephrology care with …
A method for multiplexed full-length single-molecule sequencing of the human mitochondrial genome
Methods to reconstruct the mitochondrial DNA (mtDNA) sequence using short-read
sequencing come with an inherent bias due to amplification and map**. They can fail to …
sequencing come with an inherent bias due to amplification and map**. They can fail to …
Sequencing and characterizing human mitochondrial genomes in the biobank-based genomic research paradigm
L Luo, M Wang, Y Liu, J Li, F Bu, H Yuan… - Science China Life …, 2025 - Springer
Human mitochondrial DNA (mtDNA) harbors essential mutations linked to aging,
neurodegenerative diseases, and complex muscle disorders. Due to its uniparental and …
neurodegenerative diseases, and complex muscle disorders. Due to its uniparental and …
Low disease risk and penetrance in Leber hereditary optic neuropathy
EC Watson, RL Davis, S Ravishankar, J Copty… - The American Journal of …, 2023 - cell.com
The risk of Leber hereditary optic neuropathy (LHON) has largely been extrapolated from
disease cohorts, which underestimate the population prevalence of pathogenic primary …
disease cohorts, which underestimate the population prevalence of pathogenic primary …