Results 61 to 70 of about 127,668 (260)

Protocol to perform multiplexed assays of variant effect using curated loci prime editing

STAR Protocols
Summary: Multiplexed assays of variant effect (MAVEs) perform simultaneous characterization of many variants. Here, we present a protocol to perform MAVEs using curated loci prime editing (cliPE), an accessible experimental pipeline that enables prime ...
Carina G. Biar, Nicholas Bodkin, Gemma L. Carvill, Jeffrey D. Calhoun   +3 more
doaj   +1 more source

Survival by Race and Ethnicity in Children and Adolescents/Young Adults With Relapsed/Refractory Hodgkin Lymphoma: A Pooled Analysis of Children's Oncology Group Trials

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Purpose Despite 5‐year survival rates of over 90% among children and adolescents/young adults (CAYAs) with classic Hodgkin lymphoma (cHL), 15%–20% relapse after frontline therapy. Prior analysis of frontline Children's Oncology Group (COG) clinical trials demonstrated that, despite similar rates of relapse, non‐Hispanic Black (NHB) and ...
Mallorie B. Heneghan, Lindsay A. Renfro, Yue Wu, Katia M. Crisler, Erin Marcotte, Tanya Trippett, Terzah Horton, Bradford S. Hoppe, Frank G. Keller, Chris Forlenza, Cindy Schwartz, Kara M. Kelly, Peter D. Cole, Sharon M. Castellino, Justine M. Kahn   +14 more
wiley   +1 more source

Design of DNA Pooling to Allow Incorporation of Covariates in Rare Variants Analysis

PLoS ONE, 2014
Rapid advances in next-generation sequencing technologies facilitate genetic association studies of an increasingly wide array of rare variants. To capture the rare or less common variants, a large number of individuals will be needed. However, the cost of a large scale study using whole genome or exome sequencing is still high.
Weihua Guan, Chun Li
openaire   +4 more sources

Pooled Analysis of Phosphatidylinositol 3-Kinase Pathway Variants and Risk of Prostate Cancer [PDF]

Cancer Research, 2010
Abstract The phosphatidylinositol 3-kinase (PI3K) pathway regulates various cellular processes, including cellular proliferation and intracellular trafficking, and may affect prostate carcinogenesis. Thus, we explored the association between single-nucleotide polymorphisms (SNP) in PI3K genes and prostate cancer.
Koutros, Stella, Schumacher, Fredrick R., Hayes, Richard B., Ma, Jing, Huang, Wen-Yi, Albanes, Demetrius, Canzian, Federico, Chanock, Stephen J., Crawford, E. David, Diver, W. Ryan, Feigelson, Heather Spencer, Giovanucci, Edward, Haiman, Christopher A., Henderson, Brian E., Hunter, David J., Kaaks, Rudolf, Kolonel, Laurence N., Kraft, Peter, Marchand, Loïc Le, Riboli, Elio, Siddiq, Afshan, Stampfer, Meir, Stram, Daniel O., Thomas, Gilles, Travis, Ruth C., Thun, Michael J., Yeager, Meredith, Berndt, Sonja I.   +27 more
openaire   +5 more sources

Childhood Acute Lymphoblastic Leukemia Survival in Western Kenya: Reduction in Early Deaths and Treatment Abandonment

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background An earlier study on children diagnosed with acute lymphoblastic leukemia (ALL) at Moi Teaching and Referral Hospital (MTRH) in Kenya reported a low event‐free survival (EFS), excess treatment abandonment, and high induction mortality.
Gilbert Olbara, George Bogonko, Festus Njuguna, Sandra Langat, Martha Kipngetich, Dennis Njenga, Gertjan Johannes Kaspers, Terry Allen Vik   +7 more
wiley   +1 more source

Inpatient Exposure, Confidence, and Knowledge in Pediatric Hematology/Oncology: Evaluating General Pediatric Residents During 2025 ACGME Curriculum Change

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background General pediatricians often evaluate hematologic and oncologic presentations before subspecialty consultation, yet the 2025 Accreditation Council for Graduate Medical Education (ACGME) pediatric requirements reduce inpatient pediatric hematology/oncology (PHO) time, raising questions about resident readiness.
Colburn Yu, Rohini Jain
wiley   +1 more source

MC1R variants in childhood and adolescent melanoma: a retrospective pooled analysis of a multicentre cohort [PDF]

The Lancet Child & Adolescent Health, 2019
Germline variants in the melanocortin 1 receptor gene (MC1R) might increase the risk of childhood and adolescent melanoma, but a clear conclusion is challenging because of the low number of studies and cases. We assessed the association of MC1R variants with childhood and adolescent melanoma in a large study comparing the prevalence of MC1R variants in
Pellegrini C, Botta F, Massi D, Martorelli C, Facchetti F, Gandini S, Maisonneuve P, Avril MF, Demenais F, Bressac-de Paillerets B, Hoiom V, Cust AE, Anton-Culver H, Gruber SB, Gallagher RP, Marrett L, Zanetti R, Dwyer T, Thomas NE, Begg CB, Berwick M, Puig S, Potrony M, Nagore E, Ghiorzo P, Menin C, Manganoni AM, Rodolfo M, Brugnara S, Passoni E, Sekulovic LK, Baldini F, Guida G, Stratigos A, Ozdemir F, Ayala F, Fernandez-de-Misa R, Quaglino P, Ribas G, Romanini A, Migliano E, Stanganelli I, Kanetsky PA, Pizzichetta MA, Garcia-Borron JC, Nan H, Landi MT, Little J, Newton-Bishop J, Sera F, Fargnoli MC, Raimondi S, Massi D, Pastorino L, Menin C, Alaibac M, Manganoni AM, Facchetti F, Rodolfo M, Ferrari A, Valeri B, Fargnoli MC, Pellegrini C, Brugnara S, Sicher M, Mangiola D, Passoni E, Nazzaro G, Baldini F, Tosti G, Gandini S, Mazzarol G, Guida G, Guida S, Giudice G, Ayala F, Quaglino P, Ribero S, Astrua C, Romanini A, Migliano E, Stanganelli I, Mazzoni L, Pizzichetta MA, Berwick M, Begg C, Orlow I, Mujumdar U, Hummer A, Busam K, Roy P, Cotignola J, Monroe Y, Armstrong B, Kricker A, Litchfield M, Tucker P, Stephens N, Gallagher R, Switzer T, Marrett L, Theis B, From L, Chowdhury N, Vanasse L, Purdue M, Northrup D, Zanetti R, Rosso S, Sacerdote C, Anton-Culver H, Leighton N, Gildea M, Gruber S, Bonner J, Jeter J, Klotz J, Wilcox H, Weiss H, Millikan R, Thomas N, Mattingly D, Player J, Tse CK, Rebbeck T, Kanetsky P, Walker A, Panossian S, Mohrenweiser H, Setlow R, Raimondi S, Autier P, Fargnoli MC, Kanetsky PA, Landi MT, Little J, Newton-Bishop J, Sera F, Caini S, Gandini S, Maisonneuve P, Hofman A, Kayser M, Liu F, Nijsten T, Uitterlinden AG, Kumar R, Bishop T, Elliott F, Nagore E, Lazovich D, Polsky D, Hansson J, Hoiom V, Ghiorzo P, Pastorino L, Gruis NA, Bavinck JNB, Aguilera P, Badenas C, Carrera C, Gimenez-Xavier P, Tell-Marti G, Dwyer T, Blizzard L, Cochrane J, Branicki W, Debniak T, Morling N, Johansen P, Mayne S, Bale A, Cartmel B, Ferrucci L, Pfeiffer R, Palmieri G, Ribas G, Menin C, Stratigos A, Kypreou K, Bowcock A, Cornelius L, Council ML, Motokawa T, Anno S, Helsing P, Andresen PA, Guida G, Guida S, Wong TH   +189 more
openaire   +17 more sources

A Population‐Based Study on Childhood Aplastic Anemia—Incidence, Outcomes, and Health‐Related Quality of Life

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Childhood aplastic anemia (AA) is a rare disease, and both the disease itself and its treatment cause significant morbidity. We aimed to determine the contemporary incidence of childhood AA in Finland, to compare the clinical characteristics of AA against inherited bone marrow failure syndromes (IBMFS) and refractory cytopenia of ...
Lauri‐Matti Kulmala, Riitta Niinimäki, Tytti Pokka, Anu Huurre, Liisa Järvelä, Sauli Palmu, Tuuli Pöyhönen, Pauliina Utriainen, Henri Aarnivala   +8 more
wiley   +1 more source

A statistical method for the detection of variants from next-generation resequencing of DNA pools [PDF]

Bioinformatics, 2010
Abstract Motivation: Next-generation sequencing technologies have enabled the sequencing of several human genomes in their entirety. However, the routine resequencing of complete genomes remains infeasible. The massive capacity of next-generation sequencers can be harnessed for sequencing specific genomic regions in hundreds to thousands
Vikas, Bansal, Vikas, Bansal, Ondrej, Libiger   +2 more
openaire   +4 more sources

Occurrence of Extramedullary Relapses in Pediatric Acute Lymphoblastic Leukemia After Treatment With Blinatumomab

Pediatric Blood &Cancer, EarlyView.
ABSTRACT We report a retrospective single‐center analysis of pediatric patients with relapsed or refractory B‐cell precursor acute lymphoblastic leukemia focusing on relapses outside of the typical locations, bone marrow, central nervous system, or testes.
Johanna Kunz, Martin Ebinger, Michaela Döring, Markus Mezger, Ursula Holzer, Rupert Handgretinger, Peter Lang, Manon Queudeville   +7 more
wiley   +1 more source