[HTML][HTML] Single-strand annealing in cancer

J Blasiak - International Journal of Molecular Sciences, 2021 - mdpi.com
DNA double-strand breaks (DSBs) are among the most serious forms of DNA damage. In
humans, DSBs are repaired mainly by non-homologous end joining (NHEJ) and …

Investigating mobile element variations by statistical genetics

S Kojima - Human Genome Variation, 2024 - nature.com
The integration of structural variations (SVs) in statistical genetics provides an opportunity to
understand the genetic factors influencing complex human traits and disease. Recent …

Characterizing mobile element insertions in 5675 genomes

Y Niu, X Teng, H Zhou, Y Shi, Y Li, Y Tang… - Nucleic Acids …, 2022 - academic.oup.com
Mobile element insertions (MEIs) are a major class of structural variants (SVs) and have
been linked to many human genetic disorders, including hemophilia, neurofibromatosis, and …

Contribution of unfixed transposable element insertions to human regulatory variation

C Goubert, NA Zevallos… - … Transactions of the …, 2020 - royalsocietypublishing.org
Thousands of unfixed transposable element (TE) insertions segregate in the human
population, but little is known about their impact on genome function. Recently, a few studies …

Identification and characterisation of endogenous Avian Leukosis Virus subgroup E (ALVE) insertions in chicken whole genome sequencing data

AS Mason, AR Lund, PM Hocking, JE Fulton, DW Burt - Mobile DNA, 2020 - Springer
Abstract Background Endogenous retroviruses (ERVs) are the remnants of retroviral
infections which can elicit prolonged genomic and immunological stress on their host …

The Simons Genome Diversity Project: a global analysis of mobile element diversity

WS Watkins, JE Feusier, J Thomas… - Genome biology and …, 2020 - academic.oup.com
Ongoing retrotransposition of Alu, LINE-1, and SINE–VNTR–Alu elements generates
diversity and variation among human populations. Previous analyses investigating the …

Identification and genoty** of transposable element insertions from genome sequencing data

C Chu, B Zhao, PJ Park, EA Lee - Current protocols in human …, 2020 - Wiley Online Library
Transposable element (TE) mobilization is a significant source of genomic variation and has
been associated with various human diseases. The exponential growth of population‐scale …

Genoty** of transposable element insertions segregating in human populations using short-read realignments

X Chen, G Bourque, C Goubert - Transposable Elements: Methods and …, 2022 - Springer
Transposable element (TE) insertions are a major source of structural variation in the human
genome. Due to the repetitive nature and biological importance of TEs, many bioinformatic …

Transposable Element Structural Variants in Parkinson's Disease: Focusing on Genoty** Alu Transposable Element Insertions with TypeTE

K Billingsley, J Thomas, C Goubert - Genomic Structural Variants in …, 2022 - Springer
Genetic variation contributes significantly to Parkinson's disease (PD) risk, onset, and
progression. However, most of the common genetic variation that contributes to PD is still …

Detecting signatures of TE polymorphisms in short-read sequencing data

C Stritt, AC Roulin - Plant Transposable Elements: Methods and Protocols, 2021 - Springer
Transposable elements (TEs) are an important cause of evolutionary change and functional
diversity, yet they are routinely discarded in the first steps of many analyses. In this chapter …