Germline predisposition to pediatric Ewing sarcoma is characterized by inherited pathogenic variants in DNA damage repair genes
More knowledge is needed regarding germline predisposition to Ewing sarcoma to inform
biological investigation and clinical practice. Here, we evaluated the enrichment of …
biological investigation and clinical practice. Here, we evaluated the enrichment of …
From biomedical cloud platforms to microservices: Next steps in FAIR data and analysis
NC Sheffield, VR Bonazzi, PE Bourne, T Burdett… - Scientific Data, 2022 - nature.com
The biomedical research community is investing heavily in biomedical cloud platforms.
Cloud computing holds great promise for addressing challenges with big data and ensuring …
Cloud computing holds great promise for addressing challenges with big data and ensuring …
A survey of compound heterozygous variants in pediatric cancers and structural birth defects
DB Miller, SR Piccolo - Frontiers in Genetics, 2021 - frontiersin.org
Compound heterozygous (CH) variants occur when two recessive alleles are inherited and
the variants are located at different loci within the same gene in a given individual. CH …
the variants are located at different loci within the same gene in a given individual. CH …
trioPhaser: using Mendelian inheritance logic to improve genomic phasing of trios
DB Miller, SR Piccolo - BMC bioinformatics, 2021 - Springer
Background When analyzing DNA sequence data of an individual, knowing which
nucleotide was inherited from each parent can be beneficial when trying to identify certain …
nucleotide was inherited from each parent can be beneficial when trying to identify certain …
Towards self-describing and FAIR bulk formats for biomedical data
M Lukowski, A Prokhorenkov… - PLOS Computational …, 2023 - journals.plos.org
We introduce a self-describing serialized format for bulk biomedical data called the Portable
Format for Biomedical (PFB) data. The Portable Format for Biomedical data is based upon …
Format for Biomedical (PFB) data. The Portable Format for Biomedical data is based upon …
Big Data in Pediatric Oncology: Hope, Hype, Reality
KD Wyatt, SL Volchenboum - Advances in Oncology, 2024 - advances-oncology.com
Similar to many medical specialties, pediatric oncology is entering a new era of data-driven
medicine [1]. Through a rich history based on collaborative research, outcomes for pediatric …
medicine [1]. Through a rich history based on collaborative research, outcomes for pediatric …
Germline predisposition to pediatric Ewing sarcoma is uniquely characterized by inherited pathogenic variants in DNA damage repair genes
More knowledge is needed around the role and importance of specific genes in germline
predisposition to Ewing sarcoma to inform biological investigation and clinical practice. In …
predisposition to Ewing sarcoma to inform biological investigation and clinical practice. In …
[图书][B] Inter-and intratumoral heterogeneity of circular extrachromosomal DNA in medulloblastoma and other pediatric cancers
O Chapman - 2023 - search.proquest.com
Abstract ecDNA is an important driver of aggressive adult cancers, but its role in pediatric
tumors is not yet well-understood. To survey the genomic landscape of ecDNA …
tumors is not yet well-understood. To survey the genomic landscape of ecDNA …
[HTML][HTML] Informatics methods and infrastructure needed to study factors associated with high incidence of pediatric brain and central nervous system tumors in …
Pediatric brain and central nervous system tumors (PBCNST) are the most common solid
tumors and are the leading cause of disease-related death in United States (US) children …
tumors and are the leading cause of disease-related death in United States (US) children …