Advances in germline predisposition to acute leukaemias and myeloid neoplasms
JM Klco, CG Mullighan - Nature Reviews Cancer, 2021 - nature.com
Although much work has focused on the elucidation of somatic alterations that drive the
development of acute leukaemias and other haematopoietic diseases, it has become …
development of acute leukaemias and other haematopoietic diseases, it has become …
Optical genome mapping as a next-generation cytogenomic tool for detection of structural and copy number variations for prenatal genomic analyses
Global medical associations (ACOG, ISUOG, ACMG) recommend diagnostic prenatal testing
for the detection and prevention of genetic disorders. Historically, cytogenetic methods such …
for the detection and prevention of genetic disorders. Historically, cytogenetic methods such …
High-resolution structural variant profiling of myelodysplastic syndromes by optical genome mapping uncovers cryptic aberrations of prognostic and therapeutic …
H Yang, G Garcia-Manero, K Sasaki… - Leukemia, 2022 - nature.com
Chromosome banding analysis (CBA) remains the standard-of-care for structural variant
(SV) assessment in MDS. Optical genome mapping (OGM) is a novel, non-sequencing …
(SV) assessment in MDS. Optical genome mapping (OGM) is a novel, non-sequencing …
Resolving the 22q11. 2 deletion using CTLR-Seq reveals chromosomal rearrangement mechanisms and individual variance in breakpoints
We developed a generally applicable method, CRISPR/Cas9-targeted long-read
sequencing (CTLR-Seq), to resolve, haplotype-specifically, the large and complex regions in …
sequencing (CTLR-Seq), to resolve, haplotype-specifically, the large and complex regions in …
Transposons: Unexpected players in cancer
RK Pradhan, W Ramakrishna - Gene, 2022 - Elsevier
Transposons are repetitive DNA sequences encompassing about half of the human
genome. They play a vital role in genome stability maintenance and contribute to genomic …
genome. They play a vital role in genome stability maintenance and contribute to genomic …
Analysis of genomic copy number variation in miscarriages during early and middle pregnancy
H Wu, Q Huang, X Zhang, Z Yu, Z Zhong - Frontiers in Genetics, 2021 - frontiersin.org
The purpose of this study was to explore the copy number variations (CNVs) associated with
miscarriage during early and middle pregnancy and provide useful genetic guidance for …
miscarriage during early and middle pregnancy and provide useful genetic guidance for …
Detection of complex chromosome rearrangements using optical genome mapping
J Qu, S Li, D Yu - Gene, 2023 - Elsevier
Chromosomal structural variations (SVs) are a main cause of human genetic disease.
Currently, karyotype, chromosomal microarray analysis (CMA), and fluorescent in situ …
Currently, karyotype, chromosomal microarray analysis (CMA), and fluorescent in situ …
22q11. 2 low copy repeats expanded in the human lineage
L Vervoort, N Dierckxsens, Z Pereboom… - Frontiers in …, 2021 - frontiersin.org
Segmental duplications or low copy repeats (LCRs) constitute duplicated regions
interspersed in the human genome, currently neglected in standard analyses due to their …
interspersed in the human genome, currently neglected in standard analyses due to their …
The 22q11. 2 low copy repeats
L Vervoort, JR Vermeesch - Genes, 2022 - mdpi.com
LCR22s are among the most complex loci in the human genome and are susceptible to
nonallelic homologous recombination. This can lead to a variety of genomic disorders …
nonallelic homologous recombination. This can lead to a variety of genomic disorders …
Consequences of 22q11. 2 microdeletion on the genome, individual and population levels
M Karbarz - Genes, 2020 - mdpi.com
Chromosomal 22q11. 2 deletion syndrome (22q11. 2DS)(ORPHA: 567) caused by
microdeletion in chromosome 22 is the most common chromosomal microdeletion disorder …
microdeletion in chromosome 22 is the most common chromosomal microdeletion disorder …