Results 41 to 50 of about 15,938,867 (355)

GenomeScope 2.0 and Smudgeplot for reference-free profiling of polyploid genomes

Nature Communications, 2020
An important assessment prior to genome assembly and related analyses is genome profiling, where the k-mer frequencies within raw sequencing reads are analyzed to estimate major genome characteristics such as size, heterozygosity, and repetitiveness ...
T. Ranallo-Benavidez, Kamil S. Jaron, Kamil S. Jaron, Michael C. Schatz, Michael C. Schatz   +4 more
semanticscholar   +1 more source

A draft human pangenome reference

bioRxiv, 2022
An initial draft of the human pangenome is presented and made publicly available by the Human Pangenome Reference Consortium; the draft contains 94 de novo haplotype assemblies from 47 ancestrally diverse individuals.
Wen-Wei Liao, Mobin Asri, Jana Ebler, Daniel Doerr, Marina Haukness, G. Hickey, Shuangjia Lu, Julian K. Lucas, J. Monlong, H. Abel, S. Buonaiuto, Xian H. Chang, Haoyu Cheng, Justin Chu, V. Colonna, Jordan M. Eizenga, Xiaowen Feng, Christian Fischer, R. Fulton, S. Garg, Cristian Groza, A. Guarracino, William T. Harvey, Simon Heumos, K. Howe, Miten Jain, Tsung-Yu Lu, Charles Markello, Fergal J. Martin, Matthew W. Mitchell, Katherine M. Munson, M. N. Mwaniki, Adam M. Novak, Hugh E. Olsen, Trevor Pesout, David Porubsky, P. Prins, J. Sibbesen, Chad Tomlinson, F. Villani, Mitchell R. Vollger, G. Bourque, Mark J. P. Chaisson, Paul Flicek, A. Phillippy, J. Zook, E. Eichler, D. Haussler, E. Jarvis, K. Miga, Ting Wang, Erik K. Garrison, T. Marschall, I. Hall, Heng Li, Benedict Paten   +55 more
semanticscholar   +1 more source

A Quality Improvement Initiative to Standardize Pneumocystis jirovecii Pneumonia Prophylaxis in Pediatric Patients With Solid Tumors

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Pediatric patients with extracranial solid tumors (ST) receiving chemotherapy are at an increased risk for Pneumocystis jirovecii pneumonia (PJP). However, evidence guiding prophylaxis practices in this population is limited. A PJP‐related fatality at our institution highlighted inconsistent prescribing approaches and concerns about
Kriti Kumar, Denise M. Connolly, Ellen Kellington, Elyse Zelunka, Karla Kerrigan, Furqan Shaikh, Paul C. Nathan, Meredith S. Irwin, Sarah Cohen‐Gogo   +8 more
wiley   +1 more source

Sickle Cell Disease Is an Inherent Risk for Asthma in a Sibling Comparison Study

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Introduction Sickle cell disease (SCD) and asthma share a complex relationship. Although estimates vary, asthma prevalence in children with SCD is believed to be comparable to or higher than the general population. Determining whether SCD confers an increased risk for asthma remains challenging due to overlapping symptoms and the ...
Suhei C. Zuleta De Bernardis, Okeleji Olayinka, Mariam Z. Quraishi, Lakshmi V. Srivaths, Deborah L. Brown, Neethu M. Menon, Ricardo A. Mosquera, Ashwin P. Patel, James M. Stark, Aravind Yadav   +9 more
wiley   +1 more source

GENCODE reference annotation for the human and mouse genomes

Nucleic Acids Res., 2018
The accurate identification and description of the genes in the human and mouse genomes is a fundamental requirement for high quality analysis of data informing both genome biology and clinical genomics. Over the last 15 years, the GENCODE consortium has
A. Frankish, M. Diekhans, Anne-Maud Ferreira, Rory Johnson, Irwin Jungreis, J. Loveland, Jonathan M. Mudge, Cristina Sisu, James C. Wright, J. Armstrong, If H. A. Barnes, Andrew E. Berry, A. Bignell, S. C. Sala, Jacqueline Chrast, Fiona Cunningham, T. Domenico, S. Donaldson, Ian T. Fiddes, C. García-Girón, J. Gonzalez, Tiago Grego, Matthew Hardy, Thibaut Hourlier, T. Hunt, Osagie G. Izuogu, Julien Lagarde, Fergal J. Martin, Laura Martínez, Shamika Mohanan, Paul Muir, Fábio C. P. Navarro, Anne Parker, Baikang Pei, F. Pozo, Magali Ruffier, Bianca M. Schmitt, Eloise Stapleton, M. Suner, Irina Sycheva, Barbara Uszczynska-Ratajczak, Jinrui Xu, Andrew D. Yates, D. Zerbino, Yan Zhang, Bronwen L. Aken, Jyoti Choudhary, M. Gerstein, R. Guigó, T. Hubbard, Manolis Kellis, B. Paten, A. Reymond, M. Tress, Paul Flicek   +54 more
semanticscholar   +1 more source

The Allen Mouse Brain Common Coordinate Framework: A 3D Reference Atlas

Cell, 2020
Recent large-scale collaborations are generating major surveys of cell types and connections in the mouse brain, collecting large amounts of data across modalities, spatial scales, and brain areas. Successful integration of these data requires a standard
Quanxin Wang, S. Ding, Yang Li, J. Royall, Hongkui Zeng, L. Ng   +5 more
semanticscholar   +1 more source

Pazopanib Combined With Vincristine and Irinotecan in Relapsed Wilms Tumor: Encouraging Outcomes in a Heavily Pretreated Pediatric Cohort

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background While Wilms tumor (WT) typically has a favorable prognosis, relapsed cases—especially those with high‐risk histology—remain therapeutically challenging after intensive frontline therapy. The combination of vincristine and irinotecan has demonstrated activity in pediatric solid tumors, and pazopanib, a multi‐targeted tyrosine kinase ...
Maria Debora De Pasquale, Alessandro Crocoli, Giuseppe Maria Milano, Pierluigi Di Paolo, Francesca Diomedi Camassei, Ida Russo, Annalisa Serra   +6 more
wiley   +1 more source

Personalizing the Pediatric Hematology/Oncology Fellowship: Adapting Training for the Next Generation

Pediatric Blood &Cancer, EarlyView.
ABSTRACT The pediatric hematology‐oncology fellowship training curriculum has not substantially changed since its inception. The first year of training is clinically focused, and the second and third years are devoted to scholarship. However, this current structure leaves many fellows less competitive in the current job market, resulting in ...
Scott C. Borinstein, Melissa J. Rose, Scott Moerdler, Richard Ho   +3 more
wiley   +1 more source

Psychosocial Outcomes in Patients With Endocrine Tumor Syndromes: A Systematic Review

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Introduction The combination of disease manifestations, the familial burden, and varying penetrance of endocrine tumor syndromes (ETSs) is unique. This review aimed to portray and summarize available data on psychosocial outcomes in patients with ETSs and explore gaps and opportunities for future research and care.
Daniël Zwerus, Floortje Strobbe, Annemarie A. Verrijn Stuart, Hanneke M. van Santen, Gerlof D. Valk, Sasja A. Schepers, Rachel S. van Leeuwaarde   +6 more
wiley   +1 more source

Nutritional and Behavioral Intervention for Long‐Term Childhood Acute Leukemia Survivors With Metabolic Syndrome

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Purpose Metabolic syndrome (MetS) is a common complication in survivors of childhood acute lymphoblastic and myeloid leukemia (AL), and a major risk factor for premature cardiovascular disease, type‐2‐diabetes, and metabolic dysfunction‐associated steatotic liver disease (MASLD).
Visentin Sandrine, Béliard Sophie, Renard Cécile, Caussy Cyrielle, Hamidou Zeinab, Romano David, Gacem Mélanie, Petit Arnaud, Saultier Paul, Borentain Patrick, Michel Gérard   +10 more
wiley   +1 more source