A5025098665- Forensic and Genetic Research
- Molecular Biology Techniques and Applications
- Genetic Associations and Epidemiology
- Genetic diversity and population structure
- Race, Genetics, and Society
- Epigenetics and DNA Methylation
- Genomics and Phylogenetic Studies
- RNA and protein synthesis mechanisms
- Environmental DNA in Biodiversity Studies
- Gene expression and cancer classification
- Identification and Quantification in Food
- melanin and skin pigmentation
- Genetic Mapping and Diversity in Plants and Animals
- Genetic and phenotypic traits in livestock
- Genomics and Rare Diseases
- Biochemical Analysis and Sensing Techniques
- Enzyme Structure and Function
- Biochemical and Molecular Research
- Forensic Anthropology and Bioarchaeology Studies
- Genomics and Chromatin Dynamics
- Protein Kinase Regulation and GTPase Signaling
- Skin Protection and Aging
- Metabolism and Genetic Disorders
- Ubiquitin and proteasome pathways
- PI3K/AKT/mTOR signaling in cancer
Universidade de Santiago de Compostela
2016-2025
AstraZeneca (Brazil)
2024-2025
King's College London
2024-2025
AstraZeneca (United Kingdom)
2017-2024
Parsons (United States)
2023
Covance (United States)
2020
Queen Mary University of London
1992-2018
Fundación Pública Galega de Medicina Xenómica
2005-2016
Alexandra Hospital
2012-2014
Pfizer (United Kingdom)
2007-2013
We present an up-to-date review of STRUCTURE software: one the most widely used population analysis tools that allows researchers to assess patterns genetic structure in a set samples. can identify subsets whole sample by detecting allele frequency differences within data and assign individuals those sub-populations based on likelihoods. The covers STRUCTURE's commonly ancestry models, plus overview main applications software human genetics including case-control association studies (CCAS),...
A total of 52 SNPs reported to be polymorphic in European, Asian and African populations were selected. Of these, 42 from the distal regions each autosome (except chromosome 19). Nearly all selected located at least 100 kb distant known genes commonly used STRs. We established a highly sensitive reproducible SNP-typing method with amplification DNA fragments one PCR reaction followed by detection two single base extension reactions analysed using CE. The amplicons ranged 59 115 bp length....
Ancestry-informative markers (AIMs) show high allele frequency divergence between different ancestral or geographically distant populations. These genetic are especially useful in inferring the likely origin of an individual estimating apportionment ancestry components admixed individuals The study AIMs is great interest clinical genetics research, particularly to detect and correct for population substructure effects case-control association studies, but also forensic studies. This work...
E3 ubiquitin ligases engage their substrates via ‘degrons’ - short linear motifs typically located within intrinsically disordered regions of substrates. As these enzymes are large, multi-subunit complexes that generally lack natural small-molecule ligands and hard to drug conventional means, alternative strategies needed target them in diseases, peptide-based inhibitors derived from degrons represent a promising approach. Here we explore peptide Cdc20, substrate-recognition subunit...
Abstract Human identification is usually based on the study of STRs or SNPs depending particular characteristics investigation. However, other types genetic variation such as insertion/deletion polymorphisms (indels) have considerable potential in field identification, since they can combine desirable both and SNPs. In this study, a set 38 non‐coding bi‐allelic autosomal indels reported to be polymorphic African, European, Asian populations were selected. We developed sensitive genotyping...
Relevant for various areas of human genetics, Y-chromosomal short tandem repeats (Y-STRs) are commonly used testing close paternal relationships among individuals and populations, male lineage identification. However, even the widely 17-loci Yfiler set cannot resolve populations completely. Here, 52 centers generated quality-controlled data 13 rapidly mutating (RM) Y-STRs in 14,644 related unrelated males from 111 worldwide populations. Strikingly, >99% 12,272 were completely individualized....
The 11-M Madrid commuter train bombings of 2004 constituted the second biggest terrorist attack to occur in Europe after Lockerbie, while subsequent investigation became most complex and wide-ranging forensic case Spain. Standard short tandem repeat (STR) profiling 600 exhibits left certain key incriminatory samples unmatched any apprehended suspects. A judicial order perform analyses differentiate European North African ancestry a critical part was instigated help refine search for further...
ATM (ataxia-telangiectasia mutated) is a phosphatidylinositol 3-kinase-related protein kinase (PIKK) best known for its role in DNA damage response. also functions oxidative stress response, insulin signaling, and neurogenesis. Our electron cryomicroscopy (cryo-EM) suggests that human dynamic equilibrium between closed open dimers. In the state, PIKK regulatory domain blocks peptide substrate-binding site, suggesting this conformation may represent an inactive or basally active enzyme. The...