Machine learning SNP based prediction for precision medicine
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 …
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 …
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 …
aspects of tRNA biology. An increasing number of mutations underlying human genetic …
Transcriptomic and proteomic retinal pigment epithelium signatures of age-related macular degeneration
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 …
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 …
and diseases map to a noncoding part of the genome and are enriched in its regulatory …
The genetic architecture of type 1 diabetes mellitus
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 …
the insulin-producing pancreatic beta cells in genetically predisposed individuals, ultimately …
Genomic loci mispositioning in Tmem120a knockout mice yields latent lipodystrophy
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 …
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 …
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
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 …
severe traumatic event and is diagnosed based on three main symptom clusters …
Chromatin interactions and expression quantitative trait loci reveal genetic drivers of multimorbidities
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 …
common set of predisposing factors. Despite the fact that humans have~ 24,000 genes, we …