Results 61 to 70 of about 709,139 (287)

Variant Calling Analysis

, 2018
Msc in Computational Biology of Universidad Politécnica de Madrid (UPM) Course: Genomics Data Analysis and Visualization Lesson 1: Read mapping and variant calling This tutorial is designed to introduce the tools, data types and workflow of variant ...
Joaquin Giner Lamia
core   +1 more source

Parents of Youth With Cancer Report on Their Psychosocial Care: iSTEPPP Survey Finds Alignment and Gaps With Standards

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background The Standards for Psychosocial Care for Children with Cancer and Their Families guide the provision of comprehensive psychosocial care. Parallel to research characterizing implementation of the Standards from the perspective of providers, this study examines implementation of the Standards from the perspective of parents of youth ...
Emily M. Pariseau, Kimberly Buff, Michele A. Scialla, Kimberly S. Canter, Lori Wiener, Victoria Sardi‐Brown, Julia B. Tager, Kamyar Arasteh, Anne E. Kazak   +8 more
wiley   +1 more source

Variant calling software tools.

, 2013
Variant calling software tools.
Suzanne Manning (481821), Nicola Waddell (481824), Jianmin Wu (19537), Anthony J. Gill (132630), Timothy J. Bruxner (481818), Ehsan Nourbakhsh (16631), Oliver Holmes (132636), Shivangi Wani (481822), Amber L. Johns (132632), Darrin Taylor (16118), David K. Chang (190035), Lynn Fink (132661), Scott Wood (132640), Peter J. Wilson (85965), Senel Idrisoglu (481819), Katia Nones (132620), Andrew V. Biankin (81390), Craig Nourse (481820), Anita Steptoe (481823), Ann-Marie Patch (481815), Mark Pinese (52475), David K. Miller (481816), Felicity Newell (132648), Ivon Harliwong (132623), Sarah Song (132618), Karin S. Kassahn (132626), Conrad Leonard (132638), Mark J. Cowley (107519), Sean M. Grimmond (132666), John V. Pearson (67320), Qinying Xu (132643), Marina Pajic (132629), Angelika N. Christ (481817), Matthew Anderson (132634)   +33 more
core   +1 more source

A comparison of short- and long-read whole-genome sequencing for microbial pathogen epidemiology

mSystems
Whole-genome sequencing provides the highest resolution for characterizing pathogen evolution, epidemiology, and diagnostics. Genome assemblies contain information on the identity and potential phenotypes of a pathogen.
Andrea M. Schiffer, Arafat Rahman, Wendy Sutton, Melodie L. Putnam, Alexandra J. Weisberg   +4 more
doaj   +1 more source

Chemotherapy for Spinal Cord Intramedullary Pediatric Low‐Grade Glioma—A Systematic Literature Review

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Pediatric intramedullary low‐grade gliomas (PIMLGGs) are rare neoplasms that present unique clinical and management challenges. Although surgery remains the primary tool for tissue diagnosis and decompression, complete gross‐total resection is frequently unfeasible due to the infiltrative nature of these lesions.
Olga M. Sergeenko, Segev Gabay, Jonathan Roth, Amit Ringel, Rina Dvir, Shlomi Constantini   +5 more
wiley   +1 more source

Validation of Illumina’s Isaac variant calling workflow [PDF]

, 2015
Abstract As the pace of implementing personalized medicine concepts increases, high-throughput variant calling on hundreds of individual genomes per day is a reality that will likely be faced by sequencing facilities across the country in the near future.
Mainzer, Liudmila Sergeevna, Chapman, Brad A., Hofmann, Oliver, Rendon, Gloria, Stephens, Zachary D., Jongeneel, Victor   +5 more
openaire   +1 more source

satmut_utils: a simulation and variant calling package for multiplexed assays of variant effect

Genome Biology, 2022
Abstract Background The impact of thousands of individual genetic variants on molecular phenotypes for disease-relevant genes remains unknown. Multiplexed assays for variant effect (MAVEs) are highly scalable methods to annotate the relevant variants.
Ian Hoskins, Song Sun, Atina Cote, Frederick P. Roth, Can Cenik   +4 more
openaire   +3 more sources

Nanopore long-read variant calling

, 2023
Variant calling is a crucial step in genomic analysis, enabling the identification of genetic variants and somatic mutations in sequenced DNA reads. These identified variants can provide insights into population genetics, disease progression, and cancer ...
鄭鎮賢, Zheng, Zhenxian
core  

GLM-based optimization of NGS data analysis: A case study of Roche 454, Ion Torrent PGM and Illumina NextSeq sequencing data. [PDF]

PLoS ONE, 2017
BACKGROUND:There are various next-generation sequencing techniques, all of them striving to replace Sanger sequencing as the gold standard. However, false positive calls of single nucleotide variants and especially indels are a widely known problem of ...
Sarah Sandmann, Aniek O de Graaf, Bert A van der Reijden, Joop H Jansen, Martin Dugas   +4 more
doaj   +1 more source

“We Cannot Talk as a Family”: Complexities of Survivorship Communication Among Hispanic/Latino Young Adult Survivors of Childhood Cancer, Parents, and Clinicians

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Young adult childhood cancer survivors (YA‐CCS) have an increased risk of treatment‐related health complications throughout their lives. Lifelong survivorship care is recommended, yet many YA‐CCS experience disruptions in care during pediatric‐to‐adult transitions and do not receive recommended survivorship care.
Kevin Shanchen Pu, Nicole Fernández‐Viña, Briana C. Martin‐Villa, Daniela Ramirez, Rebecca M. Lewinsohn, Mary Smith, Heidi Boynton, Lidia Schapira, Stephanie M. Smith   +8 more
wiley   +1 more source