Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
We report a systematic quantification of 10,841 unique proteins from over 700 GTEx samples, representing five human tissues. Sex, age and genetic factors are associated with variation in protein abundance. In total, 1981 cis-protein quantitative trait loci (cis-pQTL) are identified, of which a majority of protein targets have not been assayed in the recent plasma-based proteogenomic studies.
View Article and Find Full Text PDFQuantifying the spatial distribution of the accumulated dose uncertainty using the novel delta index.
Phys Med Biol
December 2024
Department of Radiotherapy, University Medical Center Utrecht, Heidelberglaan 100, 3584 CX Utrecht, The Netherlands.
Inter- and intra-fractional anatomical changes during a radiotherapy treatment can cause differences between the initially planned dose and the delivered dose. The total delivered dose can be accumulated over all fractions by using deformable image registration (DIR). However, there is uncertainty in this process which should be accounted for.
View Article and Find Full Text PDFSurVIndel2: improving copy number variant calling from next-generation sequencing using hidden split reads.
Nat Commun
December 2024
Department of Chemical Pathology, The Chinese University of Hong Kong, Hong Kong, China.
Deletions and tandem duplications (commonly called CNVs) represent the majority of structural variations in a human genome. They can be identified using short reads, but because they frequently occur in repetitive regions, existing methods fail to detect most of them. This is because CNVs in repetitive regions often do not produce the evidence needed by existing short reads-based callers (split reads, discordant pairs or read depth change).
View Article and Find Full Text PDFComparative investigation among fluorescence in situ hybridization, DNA- and RNA-sequencing on detecting MYC, BCL2, and BCL6 rearrangements in high-grade B-cell lymphomas.
Neoplasma
October 2024
Department of Pathology, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Southern Medical University, Guangzhou, China.
MYC-rearranged high-grade B-cell lymphoma (HGBCL) patients with concurrent BCL2 rearrangements (HGBCL-MYC/BCL2) often have a poor prognosis with standard chemoimmunotherapy and may benefit from more intensified regimens. Conventional fluorescence in situ hybridization (FISH) is the gold standard for detecting rearrangements, but it has several limitations. This study compared DNA- and RNA-sequencing with FISH to detect clinically relevant rearrangements in HGBCL.
View Article and Find Full Text PDFMultidimensional and Longitudinal Impact of a Genetic Diagnosis for Critically Ill Infants.
Pediatrics
December 2024
Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts.
Background And Objectives: Many genetic conditions present in the NICU, where a diagnostic evaluation is pursued. However, understanding of the impact of a genetic diagnosis on clinical outcomes and health-related quality of life for these infants remains incomplete. We therefore evaluated parent-reported outcomes complemented by clinical outcomes measures over one year for a cohort of infants in the NICU undergoing genetic evaluation.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!