Results 31 to 40 of about 338,804 (265)

Inferring structural variant cancer cell fraction

Nature Communications, 2020
The authors present SVclone, a computational method for inferring the cancer cell fraction of structural variants from whole-genome sequencing data.
Marek Cmero, Ke Yuan, Cheng Soon Ong, Jan Schröder, PCAWG Evolution and Heterogeneity Working Group, Niall M. Corcoran, Tony Papenfuss, Christopher M. Hovens, Florian Markowetz, Geoff Macintyre, PCAWG Consortium   +10 more
doaj   +1 more source

PRINCESS: comprehensive detection of haplotype resolved SNVs, SVs, and methylation

Genome Biology, 2021
Long-read sequencing has been shown to have advantages in structural variation (SV) detection and methylation calling. Many studies focus either on SV, methylation, or phasing of SNV; however, only the combination of variants provides a comprehensive ...
Medhat Mahmoud, Harshavardhan Doddapaneni, Winston Timp, Fritz J. Sedlazeck   +3 more
doaj   +1 more source

Feasibility and Safety of Somato‐Cognitive Coordination Therapy for Cerebellar Ataxia Following Pediatric Brain Tumor Treatment

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Cerebellar ataxia after pediatric brain tumor treatment can cause persistent gait, balance, and speech impairment, yet no established rehabilitation strategy exists. Somato‐cognitive coordination therapy (SCCT) is a virtual reality–guided intervention designed to promote sensorimotor integration through visually constrained reaching
Masanobu Takeuchi, Takashi Matsuzawa, Jun Yamanishi, Masahiro Yoshitomi, Junji Ikeda, Shin‐Ichi Tsujimoto, Yasuteru Yamaguchi, Norio Shiba, Dhroov Pathare, Ayumi Kato, Masahiko Hara   +10 more
wiley   +1 more source

Detecting large deletions at base pair level by combining split read and paired read data

BMC Bioinformatics, 2017
Background Genomic structural variants (SV) play a significant role in the onset and progression of cancer. Genomic deletions can create oncogenic fusion genes or cause the loss of tumor suppressing gene function which can lead to tumorigenesis by ...
Matthew Hayes, Jeremy S. Pearson
doaj   +1 more source

Early Impact of Childhood Opportunity on Neurocognitive Outcomes in Sickle Cell Disease

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Introduction Neurocognitive impairment is a well‐recognized complication of sickle cell disease (SCD) that begins early in childhood and persists across development. While cerebrovascular injury contributes substantially to risk, neurocognitive deficits are also observed in children without overt or silent cerebral infarctions, suggesting ...
Julia E. LaMotte, Hannah Koch, Olivia A. Coughlin, Jillian R. Bouck, Allie Carter, Seethal A. Jacob   +5 more
wiley   +1 more source

Shiny-SoSV: A web-based performance calculator for somatic structural variant detection.

PLoS ONE, 2020
Somatic structural variants are an important contributor to cancer development and evolution. Accurate detection of these complex variants from whole genome sequencing data is influenced by a multitude of parameters. However, there are currently no tools
Tingting Gong, Vanessa M Hayes, Eva K F Chan   +2 more
doaj   +1 more source

Ironic Medications: A Narrative‐Based Psycho‐Educational Intervention to Explore Patient–Provider Communication in Adolescents With Haematological Cancer

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Adolescents with haematological malignancies face significant emotional and relational challenges, often accompanied by difficulties in communicating their needs within the healthcare context. To address these issues, a narrative‐based psycho‐educational intervention based on the creation and prescription of Ironic Medications was ...
Marta Stoppa, Elena Pagani Bagliacca, Selena Russo, Giulia Rampoldi, Maria Grazia Strepparava, Adriana Cristina Balduzzi, Andrea Biondi, Marco Spinelli   +7 more
wiley   +1 more source

Telomere‐to‐telomere reference genome reveals subgenome divergence and large structural variants in Capsella bursa‐pastoris (Brassicaceae)

Biological Diversity
Capsella is a model genus for studying polyploid speciation and mating system transitions. Here, we report a subgenome‐resolved telomere‐to‐telomere reference genome of Capsella bursa‐pastoris, the only polyploid species in the genus, generated by ...
Xin Liu, Lu Liu, Hai‐Fei Yan, Xue‐Jun Ge, Hui‐Run Huang   +4 more
doaj   +1 more source

Incidence and Severity of Carboplatin‐Associated Hearing Loss in Children With Cancer Assessed by the SIOP Boston 2012 Ototoxicity Criteria

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Platinum‐based chemotherapy is known to cause severe and debilitating hearing loss, but unlike cisplatin, the true incidence of carboplatin‐induced hearing loss remains unclear. We evaluated functional hearing outcomes in children receiving carboplatin to determine the incidence and severity of ototoxicity. Procedure We identified a
Aniket Chawla, Sean Carter, Andrew Wood, Sandra Staffieri, Andrew Dodgshun, David D. Eisenstat, Michael Sullivan   +6 more
wiley   +1 more source

Chromoanagenesis in Osteosarcoma

Biomolecules
Chromoanagenesis is a catastrophic genomic phenomenon involving sudden, extensive rearrangements within one or a few cell cycles. In osteosarcoma, the most prevalent malignant bone tumor in children and adolescents, these events dramatically alter the ...
Guozhuang Li, Nan Wu, Jen Ghabrial, Victoria Stinnett, Melanie Klausner, Laura Morsberger, Patty Long, Ezra Baraban, John M. Gross, Ying S. Zou   +9 more
doaj   +1 more source