Longitudinal changes in the frequency of mosaic chromosome Y loss in peripheral blood cells of aging men varies profoundly between individuals

M Danielsson, J Halvardson, H Davies… - European Journal of …, 2020 - nature.com
Mosaic loss of chromosome Y (LOY) is the most common somatic genetic aberration and is
associated with increased risk for all-cause mortality, various forms of cancer and …

Cancer-associated chromosomal deletions: Size makes a difference

Y Cai, AA Sablina - Cell Cycle, 2016 - Taylor & Francis
Latest technological advances have empowered researchers to systematically examine the
cancer genome at unprecedented resolution. Recent studies revealed that somatically …

Assessing copy number aberrations and copy neutral loss of heterozygosity across the genome as best practice: An evidence based review of clinical utility from the …

R Kanagal-Shamanna, JC Hodge, T Tucker, S Shetty… - Cancer genetics, 2018 - Elsevier
Multiple studies have demonstrated the utility of chromosomal microarray (CMA) testing to
identify clinically significant copy number alterations (CNAs) and copy-neutral loss-of …

Assessing karyotype precision by microarray-based comparative genomic hybridization in the myelodysplastic/myeloproliferative syndromes

ML Slovak, DD Smith, V Bedell, YH Hsu… - Molecular …, 2010 - Springer
Background Recent genome-wide microarray-based research investigations have revealed
a high frequency of submicroscopic copy number alterations (CNAs) in the myelodysplastic …

[HTML][HTML] Association of mosaic loss of chromosome Y with lung cancer risk and prognosis in a Chinese population

N Qin, N Li, C Wang, Z Pu, Z Ma, G Jin, M Zhu… - Journal of Thoracic …, 2019 - Elsevier
Introduction Mosaic loss of chromosome Y (mLOY) is the most commonly detectable mosaic
chromosomal event in cancers; however, its underlying relationship with tumorigenesis is …

Postzygotic mutations and where to find them–Recent advances and future implications in the field of non-neoplastic somatic mosaicism

K Wasilewska, T Gambin, M Rydzanicz… - … Research/Reviews in …, 2022 - Elsevier
The technological progress of massively parallel sequencing (MPS) has triggered a
remarkable development in the research on postzygotic mutations. Although the …

MIPP-Seq: ultra-sensitive rapid detection and validation of low-frequency mosaic mutations

RN Doan, MB Miller, SN Kim, RE Rodin, J Ganz… - BMC Medical …, 2021 - Springer
Background Mosaic mutations contribute to numerous human disorders. As such, the
identification and precise quantification of mosaic mutations is essential for a wide range of …

Clonal hematopoiesis, somatic mosaicism, and age-associated disease

MA Evans, K Walsh - Physiological Reviews, 2023 - journals.physiology.org
Somatic mosaicism, the occurrence of multiple genetically distinct cell clones within the
same tissue, is an evitable consequence of human aging. The hematopoietic system is no …

Somatic mosaicism for copy-neutral loss of heterozygosity and DNA copy number variations in the human genome

O Žilina, M Koltšina, R Raid, A Kurg, N Tõnisson… - BMC genomics, 2015 - Springer
Background Somatic mosaicism denotes the presence of genetically distinct populations of
somatic cells in one individual who has developed from a single fertilised oocyte. Mosaicism …

MosaicHunter: accurate detection of postzygotic single-nucleotide mosaicism through next-generation sequencing of unpaired, trio, and paired samples

AY Huang, Z Zhang, AY Ye, Y Dou, L Yan… - Nucleic acids …, 2017 - academic.oup.com
Genomic mosaicism arising from postzygotic mutations has long been associated with
cancer and more recently with non-cancer diseases. It has also been detected in healthy …