Results 171 to 180 of about 122,453 (313)

Comparison of Variant Calls from Whole Genome and Whole Exome Sequencing Data Using Matched Samples

, 2018
Niclas Björn, Sailendra Pradhananga, Benjamín Sigurgeirsson, John G. Lundberg, Henrik Gréen, Pelin Sahlén   +5 more
openalex   +2 more sources

Improving genetic diagnosis of hereditary tumor syndromes: From expanded gene panels to functional genomics

International Journal of Cancer, EarlyView.
Abstract Genetic tumor risk syndromes (genturis) contribute substantially to the overall cancer burden and provide opportunities for early detection, prevention, and individualized treatment. Yet, many affected individuals remain undiagnosed due to restrictive testing criteria and challenges in variant interpretation.
Mayra Sauer, Morghan C. Lucas, Vitus Prokosch, Thomas Keßler, Thomas Risch, Andreas Laner, Jan Henkel, Anna Benet‐Pagès, Ariane Hallermayr, Verena Steinke‐Lange, Elke Holinski‐Feder, Barbara Klink   +11 more
wiley   +1 more source

A multilevel perspective on MSH6‐associated Lynch syndrome: Integrating molecular, biological, and clinical insights

International Journal of Cancer, EarlyView.
Abstract Lynch syndrome (LS) is the most common hereditary colorectal cancer syndrome, caused by a germline pathogenic variant in one of the mismatch repair (MMR) genes. Among these, MSH6‐associated LS represents a distinct subtype with unique molecular and clinical characteristics.
Salwa Ben Yahia, Anne‐Sophie van der Werf‐'t Lam, Madalina Cabuta, Maartje Nielsen, Noah C. Helderman   +4 more
wiley   +1 more source

Identification and prioritisation of causal variants in human genetic disorders from exome or whole genome sequencing data [PDF]

, 2017
Nagarajan Paramasivam, Martin Granzow, Christina Evers, Katrin Hinderhofer, Stefan Wiemann, Claus R. Bartram, Roland Eils, Matthias Schlesner   +7 more
openalex   +1 more source

Molecular Tumor Boards in Malignant Melanoma: Uncovering Challenges and Opportunities in a Bicenter Retrospective Analysis in Germany

International Journal of Cancer, EarlyView.
Molecular tumor boards (MTB), interdisciplinary teams that use tumor genomic data to guide personalized treatment decisions, have emerged as a promising strategy in melanoma care, although their real‐world clinical impact remains uncertain. This retrospective study evaluated advanced melanoma patients to assess molecularly guided treatment ...
Glenn Geidel, Theresa Lowinus, Patrick Metzger, Rebecca Czurda, Vincent Schipperges, Ulrike Paul, Alessandra Rünger, Julian Kött, Isabel Heidrich, Saskia Lehr, Julia Kühn, Heiko Becker, Cornelius Miething, Martin Werner, Silke Laßmann, Justus Duyster, Tilman Brummer, Ronald Simon, Winfried Alsdorf, Maximilian Christopeit, Carsten Bokemeyer, Kilian Eyerich, Stefan W. Schneider, David Rafei, Melanie Börries, Frank Meiss, Christoffer Gebhardt   +26 more
wiley   +1 more source

bacNeo: A Computational Toolkit for Identifying Bacteria‐Derived Neoantigens in Human Cancers

iMetaMed, EarlyView.
We present bacterial neoantigen (bacNeo), a multi‐omics‐based computational software to classify bacterial components (BACC), type bacteria‐bound HLA alleles (BACH), and prioritize bacterial peptides as neoantigens (BACP). Bacterial neoantigen potential is quantified by score for peptide antigenicity recognition & kinetics (SPARK), enabling ...
Yunzhe Wang, Li Yuan, Katie W. Gu, Xiangdong Cheng, Bo Wen, Zhao Zhang   +5 more
wiley   +1 more source

Enhanced Exome Sequencing Improves the Genetic Diagnosis of Deafblindness. [PDF]

Genes (Basel)
Cifuentes GA, Diñeiro M, Huete AR, Capín R, Santiago A, Vargas AAR, Carrero D, Biscay J, López Martínez E, Aguiar B, Urbaniak M, Fernández-Vega B, Costales M, González-Aguado R, Cabanillas R, Cadiñanos J.   +15 more
europepmc   +1 more source

Portable pipeline for whole exome and genome sequencing

, 2019
T. A. Isaev, Andrey Kokorev, Joel B. Krier, Patrick Magee, Heather Ward, Arezou A. Ghazani, Michael Bouzinier   +6 more
openalex   +1 more source

Progress of metabolomics‐centric multi‐omics research in medicine

iMetaOmics, EarlyView.
The graphical abstract illustrates a holistic roadmap for metabolomics‐centric multi‐omics integration in medical research. The upper panel depicts the technological transition from traditional bulk analysis to high‐resolution single‐cell and spatial methodologies, specifically addressing inherent challenges such as molecular complexity and dynamic ...
Ziyi Wang, Shiwen Deng, Xiaoxu Wang, Xiao Chang, Na Guo, Peng Chen, Hongjun Yang   +6 more
wiley   +1 more source

Parent/caregiver needs during pediatric genome-wide sequencing: A scoping literature review. [PDF]

J Genet Couns
Murali P, Yu JH.
europepmc   +1 more source