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Deleterious heteroplasmic mitochondrial mutations are associated with an increased risk of overall and cancer-specific mortality

Mitochondrial DNA is known to exhibit heterogeneity of variants, even within a single cell. Here, the authors assessed this heteroplasmy of mitochondrial DNA within the UK Biobank cohort and showed that the presence of heteroplasmy and a functional score generated from heteroplasmic SNVs were associated with all-cause mortality and certain cancers.

Yun Soo Hong
Stephanie L. Battle
Dan E. Arking
ResearchOpen Access30 Sept 2023
Nature Communications

Volume: 14, P: 1-16
Consistent RNA sequencing contamination in GTEx and other data sets

Sample contamination has been reported in high throughput RNA sequencing. Here the authors analyze the RNA sequencing data from the Genotype-Tissue Expression project and describe how highly expressed, tissue specific genes contaminate across samples, which is corroborated in other data sets.

Tim O. Nieuwenhuis
Stephanie Y. Yang
Marc K. Halushka
ResearchOpen Access22 Apr 2020
Nature Communications

Volume: 11, P: 1-10
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Michael Talkowski and colleagues analyze balanced chromosomal abnormalities in 273 individuals by whole-genome sequencing. Their findings suggest that sequence-level resolution improves prediction of clinical outcomes for balanced rearrangements and provides insight into pathogenic mechanisms such as altered gene regulation due to changes in chromosome topology.

Claire Redin
Harrison Brand
Michael E Talkowski
Research14 Nov 2016
Nature Genetics

Volume: 49, P: 36-45
Estrogen-related receptor gamma implicated in a phenotype including hearing loss and mild developmental delay

Samantha LP Schilit
Benjamin B Currall
Cynthia C Morton
Research06 Jul 2016
European Journal of Human Genetics

Volume: 24, P: 1622-1626
Statistical and functional convergence of common and rare genetic influences on autism at chromosome 16p

Common polygenic variation at chromosome 16p and rare recurrent deletions of 16p11.2 influencing autism risk are associated with reduced expression of genes throughout the 16p region, suggesting functional convergence of rare and common variant effects.

Daniel J. Weiner
Emi Ling
Elise B. Robinson
ResearchOpen Access24 Oct 2022
Nature Genetics

Volume: 54, P: 1630-1639

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Deleterious heteroplasmic mitochondrial mutations are associated with an increased risk of overall and cancer-specific mortality

Consistent RNA sequencing contamination in GTEx and other data sets

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Estrogen-related receptor gamma implicated in a phenotype including hearing loss and mild developmental delay

Statistical and functional convergence of common and rare genetic influences on autism at chromosome 16p

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