Machine learning SNP based prediction for precision medicine

DSW Ho, W Schierding, M Wake, R Saffery… - Frontiers in …, 2019 - frontiersin.org
In the past decade, precision genomics based medicine has emerged to provide tailored
and effective healthcare for patients depending upon their genetic features. Genome Wide …

Human transfer RNA modopathies: diseases caused by aberrations in transfer RNA modifications

T Chujo, K Tomizawa - The FEBS journal, 2021 - Wiley Online Library
tRNA molecules are post‐transcriptionally modified by tRNA modification enzymes.
Although composed of different chemistries, more than 40 types of human tRNA …

Matching tRNA modifications in humans to their known and predicted enzymes

V de Crécy-Lagard, P Boccaletto… - Nucleic acids …, 2019 - academic.oup.com
Abstract tRNA are post-transcriptionally modified by chemical modifications that affect all
aspects of tRNA biology. An increasing number of mutations underlying human genetic …

Transcriptomic and proteomic retinal pigment epithelium signatures of age-related macular degeneration

A Senabouth, M Daniszewski, GE Lidgerwood… - Nature …, 2022 - nature.com
There are currently no treatments for geographic atrophy, the advanced form of age-related
macular degeneration. Hence, innovative studies are needed to model this condition and …

Regulatory SNPs: altered transcription factor binding sites implicated in complex traits and diseases

AO Degtyareva, EV Antontseva… - International journal of …, 2021 - mdpi.com
The vast majority of the genetic variants (mainly SNPs) associated with various human traits
and diseases map to a noncoding part of the genome and are enriched in its regulatory …

The genetic architecture of type 1 diabetes mellitus

DM Nyaga, MH Vickers, C Jefferies, JK Perry… - Molecular and cellular …, 2018 - Elsevier
Type 1 diabetes mellitus (T1D) is a complex autoimmune disorder characterised by loss of
the insulin-producing pancreatic beta cells in genetically predisposed individuals, ultimately …

Genomic loci mispositioning in Tmem120a knockout mice yields latent lipodystrophy

R Czapiewski, DG Batrakou, JI de Las Heras… - Nature …, 2022 - nature.com
Little is known about how the observed fat-specific pattern of 3D-spatial genome
organisation is established. Here we report that adipocyte-specific knockout of the gene …

Estimation of inbreeding and identification of regions under heavy selection based on runs of homozygosity in a Large White pig population

L Shi, L Wang, J Liu, T Deng, H Yan, L Zhang… - Journal of Animal …, 2020 - Springer
Abstract Background Runs of homozygosity (ROHs) are homozygous segments of the
genome where the two haplotypes inherited from the parents are identical. The current …

Genetically regulated multi-omics study for symptom clusters of posttraumatic stress disorder highlights pleiotropy with hematologic and cardio-metabolic traits

GA Pathak, K Singh, FR Wendt, TW Fleming… - Molecular …, 2022 - nature.com
Posttraumatic stress disorder (PTSD) is a psychiatric disorder that may arise in response to
severe traumatic event and is diagnosed based on three main symptom clusters …

Chromatin interactions and expression quantitative trait loci reveal genetic drivers of multimorbidities

T Fadason, W Schierding, T Lumley… - Nature …, 2018 - nature.com
Clinical studies of non-communicable diseases identify multimorbidities that suggest a
common set of predisposing factors. Despite the fact that humans have~ 24,000 genes, we …