Results 91 to 100 of about 502,320 (296)

Ethnic Differences in the Association Between SOD2 rs4880 and Hepatotoxicity in Pediatric Acute Lymphoblastic Leukemia: A Report From the REDIAL Consortium

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Treatment‐associated hepatotoxicity (TAH) is a common complication of pediatric acute lymphoblastic leukemia (ALL) treatment, but genetic risk factors remain poorly understood. We evaluated the SOD2 rs4880 variant in 544 children with ALL at Texas Children's Hospital. After adjusting for demographic and clinical covariates, the rs4880 C allele
Emily J. Mason, John P. Woodhouse, Joanna S. Yi, M. Monica Gramatges, Olga A. Taylor, Veronica A. Morales, Shalini Dhamodharan, Marley Roberts, Karen R. Rabin, Philip J. Lupo, Michael E. Scheurer, Van Huynh, Steven D. Mittelman, Etan Orgel, Austin L. Brown   +14 more
wiley   +1 more source

Inferring clonal evolution of tumors from single nucleotide somatic mutations [PDF]

, 2013
High-throughput sequencing allows the detection and quantification of frequencies of somatic single nucleotide variants (SNV) in heterogeneous tumor cell populations.
Deshwar, Amit G., Jiao, Wei, Morris, Quaid, Stein, Lincoln, Vembu, Shankar   +4 more
core   +2 more sources

The Role of Constitutional Copy Number Variants in Breast Cancer [PDF]

Microarrays, 2015
Constitutional copy number variants (CNVs) include inherited and de novo deviations from a diploid state at a defined genomic region. These variants contribute significantly to genetic variation and disease in humans, including breast cancer susceptibility.
Walker, Logan C., Wiggins, George A.R., Pearson, John F.   +2 more
openaire   +2 more sources

Deep Sequencing of FLT3‐ITD Enables Response Evaluation and Post‐Treatment Monitoring in Childhood AML: An Exploratory Study

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background An internal tandem duplication in the gene encoding Fms‐like tyrosine kinase 3 (FLT3‐ITD) is associated with high relapse risk and poor prognosis in acute myeloid leukemia (AML) and plays a crucial role in treatment decisions. Measurable residual disease (MRD) analysis of FLT3‐ITD during and after treatment has shown prognostic ...
Sofie Johansson Alm, Bea Tornberg, Erik Delsing Malmberg, Henrik Hasle, Kristian Løvvik Juul‐Dam, Lars Palmqvist, Borhan R. Saeed, Giti Shah Barkhordar, Anastasia Soboli, Anna Staffas, Jonas Abrahamsson, Linda Fogelstrand   +11 more
wiley   +1 more source

Performance analysis of a parallel, multi-node pipeline for DNA sequencing [PDF]

, 2016
Post-sequencing DNA analysis typically consists of read mapping followed by variant calling and is very time-consuming, even on a multi-core machine.
A Hatem, A McKenna, D Decap, GA Van der Auwera, H Li, H Li, J Dean, MA Depristo, ST Sherry   +8 more
core   +1 more source

Endometriosis Is Associated with Rare Copy Number Variants

PLoS ONE, 2014
Endometriosis is a complex gynecological condition that affects 6-10% of women in their reproductive years and is defined by the presence of endometrial glands and stroma outside the uterus. Twin, family, and genome-wide association (GWA) studies have confirmed a genetic role, yet only a small part of the genetic risk can be explained by SNP variation.
Rakesh Chettier, Kenneth Ward, Hans M Albertsen   +2 more
openaire   +4 more sources

Association of Rare Copy Number Variants With Risk of Depression [PDF]

JAMA Psychiatry, 2019
The role of large, rare copy number variants (CNVs) in neuropsychiatric disorders is well established, but their association with common psychiatric disorders, such as depression, remains unclear.To examine the association of a group of 53 CNVs associated with neurodevelopmental disorders and burden of rare CNVs with risk of depression.This case ...
Kendall, Kimberley Marie, Rees, Elliott, Bracher-Smith, Matthew, Legge, Sophie, Riglin, Lucy, Zammit, Stanley, O'Donovan, Michael Conlon, Owen, Michael John, Jones, Ian, Kirov, George, Walters, James Tynan Rhys   +10 more
openaire   +5 more sources

This Is Not a Myeloproliferative Neoplasm…

Pediatric Blood &Cancer, EarlyView.
Stephanie Juané Kennedy
wiley   +1 more source

Mapping the evolution of mitochondrial complex I through structural variation

FEBS Letters, EarlyView.
Respiratory complex I (CI) is crucial for bioenergetic metabolism in many prokaryotes and eukaryotes. It is composed of a conserved set of core subunits and additional accessory subunits that vary depending on the organism. Here, we categorize CI subunits from available structures to map the evolution of CI across eukaryotes. Respiratory complex I (CI)
Dong‐Woo Shin, Tingting Chen, James A. Letts   +2 more
wiley   +1 more source

Fetal Brain Tumor Harboring a Unique ROCK1::BRAF Fusion

Pediatric Blood &Cancer, EarlyView.
Marllon Cindra Sant'Ana, Mariana Maschietto, Daniela Paz Leal, Ricardo de Santos de Oliveira, Mayara Ferreira Euzébio, Antonio Carlos dos Santos, Luciano Neder, Carlos Alberto Scrideli, Elvis Terci Valera   +8 more
wiley   +1 more source