Response to letter by Pulsipher et al.

Pinkel, Donald

doi:10.1038/leu.2010.125

Cited by 2 publications

(2 citation statements)

References 9 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…This method required the preparation of high-molecular-weight DNA, an often trial-and-error identification of informative restriction enzymes, and the design of probes adjacent to the breakpoints themselves. When array comparative genomic hybridization (array CGH) methods 6 became the standard for copy number variant detection, they were often applied to initially refine breakpoints 7,8 ; follow-up with long-range PCR, subcloning, and capillary sequencing in some cases then enabled the precise delineation of breakpoints 8 . This strategy worked well for breakpoints mapping in unique regions of the genome and would, in principle, prove effective in mapping breakpoints within small segmental duplications (<10 kbp).…”

Section: Introductionmentioning

confidence: 99%

Resolving genomic disorder–associated breakpoints within segmental DNA duplications using massively parallel sequencing

et al. 2014

View full text Add to dashboard Cite

The most common recurrent copy number variants associated with autism, developmental delay, and epilepsy are flanked by segmental duplications. Complete genetic characterization of these events is challenging because their breakpoints often occur within high-identity, copy number polymorphic paralogous sequences that cannot be specifically assayed using hybridization-based methods. Here, we provide a protocol for breakpoint resolution with sequence-level precision. Massively parallel sequencing is performed on libraries generated from haplotype-resolved chromosomes, genomic DNA, or molecular inversion probe–captured breakpoint-informative regions harboring paralog-distinguishing variants. Quantifying sequencing depth over informative sites enables breakpoint localization, typically within several kilobases to tens of kilobases. Depending on the approach employed, the sequencing platform, and the accuracy and completeness of the reference genome sequence, this protocol takes from a few days to several months to complete. Once established for a specific genomic disorder, it is possible to process thousands of DNA samples within as little as 3–4 weeks.

show abstract

Section: Introductionmentioning

confidence: 99%

Resolving genomic disorder–associated breakpoints within segmental DNA duplications using massively parallel sequencing

et al. 2014

View full text Add to dashboard Cite

show abstract

“…As a whole, the role of HSCT in CR1 for pediatric ALL has been a controversial topic for several decades (9,(12)(13)(14)(15). Previous studies have been divided in recommending it for patients with certain high-risk leukemia subsets (16)(17)(18).…”

Section: Contextmentioning

confidence: 99%

The Role of Hematopoietic Stem-Cell Transplantation in First Remission in Pediatric Acute Lymphoblastic Leukemia: A Narrative Review

Bhatt¹,

Phelan²,

Burke³

2017

J Pediatr Rev

View full text Add to dashboard Cite

Context: Survival after allogeneic hematopoietic stem-cell transplantation (HSCT) for children with hematologic malignancies including acute lymphoblastic leukemia (ALL) continues to improve in part due to advancement in HLA typing and enhanced supportive care. Despite improved outcomes with HSCT, the decision to offer it in first remission (CR1) in children with ALL remains a topic of debate and uncertainty. This review aims to discuss the role of HSCT in CR1 for children with high-risk subsets of ALL in the current era. Evidence Acquisition: A thorough review of the literature was performed using electronic databases: PubMed, Google Scholar, and bibliographies. Studies focusing on high-risk subsets of ALL (Primary Induction Failure, Severe Hypodiploidy, Philadelphiachromosome positive ALL, T-Cell ALL, Infant ALL, ALL with persistent minimal residual disease (MRD), and Philadelphia-like ALL) were included. Publications in non-English language were excluded. Results: Based on our review of the current literature, HSCT should be considered in first remission for patients with primary induction failure, severe hypodiploidy, T-cell ALL with poor response, high-risk infant ALL, and persistently positive MRD. In contrast, HSCT in CR1 may not be warranted for patients with early T-cell progenitor ALL or Philadelphia-chromosome positive ALL. Further data are needed to make specific recommendations regarding Philadelphia-like ALL. Conclusions: As our understanding of high-risk leukemia biology continues to develop, the role of HSCT in ALL CR1 will need to be revisited.

show abstract

Response to letter by Pulsipher et al.

Cited by 2 publications

References 9 publications

Resolving genomic disorder–associated breakpoints within segmental DNA duplications using massively parallel sequencing

Resolving genomic disorder–associated breakpoints within segmental DNA duplications using massively parallel sequencing

The Role of Hematopoietic Stem-Cell Transplantation in First Remission in Pediatric Acute Lymphoblastic Leukemia: A Narrative Review

Contact Info

Product

Resources

About