Results 41 to 50 of about 910,209 (262)

Long-Read Sequencing as a Diagnostic Tool for Primary Ciliary Dyskinesia

Case Reports in Genetics
Primary ciliary dyskinesia (PCD) is a rare, inherited disease resulting from abnormal structure and/or function of cilia. To date, pathogenic variants in over 50 genes have been reported as causes of PCD.
Liora H. Feshbach, Morgan Similuk, Laura M. Amendola, Katie L. Lewis, Magdalena A. Walkiewicz, Mari Tokita, Rajarshi Ghosh, Andrew Lipton   +7 more
doaj   +1 more source

The GENCODE exome: sequencing the complete human exome [PDF]

, 2011
Sequencing the coding regions, the exome, of the human genome is one of the major current strategies to identify low frequency and rare variants associated with human disease traits.
Palta, P, Turner, DJ, Harrow, J, Lehesjoki, AE, Eleanor Drury, Kokocinski, Felix, Drury, Eleanor, Palotie, A, Scott, Carol E, Hubbard, TJ, Palta, Priit, Scott, CE, Sarah Hunt, Lehesjoki, Anna-Elina, Tim J Hubbard, Harrow, Jen, Hunt, Sarah, Leproust, EM, Felix Kokocinski, Joyce, Christopher J, Joyce, CJ, Carol E Scott, Jen Harrow, Anna-Elina Lehesjoki, Maria S Calafato, Aarno Palotie, Calafato, MS, Priit Palta, Hunt, S, Kokocinski, F, Christopher J Joyce, Palotie, Aarno, Turner, Daniel J, Coffey, AJ, Coffey, Alison J, Alison J Coffey, Leproust, Emily M, Drury, E, Daniel J Turner, Hubbard, Tim, Calafato, Maria S, Emily M LeProust, Hubbard, Tim J; id_orcid   +42 more
core   +1 more source

European Standard Clinical Practice Guideline and EXPeRT Recommendations for the Diagnosis and Management of Gastroenteropancreatic Neuroendocrine Neoplasms in Children and Adolescents

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Pediatric gastroenteropancreatic neuroendocrine neoplasms (GEP‐NENs) are extremely rare and clinically heterogeneous. Management has largely been extrapolated from adult practice. This European Standard Clinical Practice Guideline (ESCP), developed by the EXPeRT network in collaboration with adult NEN experts, provides (adult) evidence ...
Michaela Kuhlen, Calogero Virgone, Antje Redlich, Michael Abele, Ricardo Lopez‐Almaraz, Tal Ben‐Ami, Ewa Bien, Gianni Bisogno, Maja Mazic Cesen, Andrea Ferrari, Malgorzata A. Krawczyk, Yves Reguerre, Dominik T. Schneider, Ines B. Brecht, Charlotte Rigaud, Bilgehan Yalcin, Rainer Claus, Christian Vokuhl, Constantin Lapa, Jörg Fuchs, Segolene Hescot, Thomas Walter, Julien Hadoux, Daniel Orbach   +23 more
wiley   +1 more source

Hidden biases in germline structural variant detection

Genome Biology, 2021
Background Genomic structural variations (SV) are important determinants of genotypic and phenotypic changes in many organisms. However, the detection of SV from next-generation sequencing data remains challenging.
Michael M. Khayat, Sayed Mohammad Ebrahim Sahraeian, Samantha Zarate, Andrew Carroll, Huixiao Hong, Bohu Pan, Leming Shi, Richard A. Gibbs, Marghoob Mohiyuddin, Yuanting Zheng, Fritz J. Sedlazeck   +10 more
doaj   +1 more source

Ovarian Sex Cord Stromal Tumors in Children and Adolescents—The European Standard Clinical Practice Recommendations

Pediatric Blood &Cancer, EarlyView.
ABSTRACT As part of the European Cooperative Study Group for Paediatric Rare Tumours initiative, we developed standard clinical practice guidelines for ovarian sex cord stromal tumors, based on comprehensive national and international cohort analyses, literature review, and a final expert consensus conference.
Dominik T. Schneider, Kris‐Ann Schultz, Nora Schnitzler, Michael Abele, Tal Ben‐Ami, Ewa Bien, Gianni Bisogno, Ines B. Brecht, Maja Cesen, Andrea Ferrari, Michaela Kuhlen, Malgorzata A. Krawczyk, Ricardo Lopez‐Almaraz, Yves Reguerre, Calogero Virgone, Daniel Orbach   +15 more
wiley   +1 more source

Identifying predictive features of Clostridium difficile infection recurrence before, during, and after primary antibiotic treatment

Microbiome, 2017
Background Colonization by the pathogen Clostridium difficile often occurs in the background of a disrupted microbial community. Identifying specific organisms conferring resistance to invasion by C.
Sepideh Pakpour, Amit Bhanvadia, Roger Zhu, Abhimanyu Amarnani, Sean M. Gibbons, Thomas Gurry, Eric J. Alm, Laura A. Martello   +7 more
doaj   +1 more source

Illuminating Choices for Library Prep: A Comparison of Library Preparation Methods for Whole Genome Sequencing of Cryptococcus neoformans Using Illumina HiSeq. [PDF]

, 2014
The industry of next-generation sequencing is constantly evolving, with novel library preparation methods and new sequencing machines being released by the major sequencing technology companies annually.
Mathew A Beale, Fisher, Matthew C, Rhodes Johanna, Matthew C Fisher, Rhodes, Johanna, Beale Mathew A., Fisher, MC, Beale, Mathew A, Fisher, Matthew C., Beale, Mathew A., Fisher Matthew C., Beale, MA, Rhodes, J, Johanna Rhodes, Rhodes, Johanna; id_orcid   +14 more
core   +1 more source

Pre-sequencing assessment of RNA-Seq library quality using real-time qPCR

BioTechniques
RNA sequencing (RNA-Seq) is an essential assay for studying transcriptome profiling. Ribosomal RNA (rRNA) comprises more than 80–90% of total cellular RNA; efficient removal is essential for accurately capturing transcriptomes, particularly to sequence ...
Kavya Kottapalli, Hsu Chao, Qi Jiang, Jimmonique Donelson, Nathanael Emerick, Sravya V Bhamidipati, Zeineen Momin, Tittu Mathew, Ziad M. Khan, Viktoriya Korchina, Marie-Claude Gingras, Donna Muzny, Richard Gibbs, Harsha Doddapaneni   +13 more
doaj   +1 more source

Quantifying single nucleotide variant detection sensitivity in exome sequencing [PDF]

, 2013
BACKGROUND: The targeted capture and sequencing of genomic regions has rapidlydemonstrated its utility in genetic studies. Inherent in this technology isconsiderable heterogeneity of target coverage and this is expected tosystematically impact our ...
Taylor, Martin S.; id_orcid, Andrew P Jackson, Alison M Meynert, Jackson, Andrew, Bicknell, Louise, Martin S Taylor, Matthew E Hurles, Meynert, Alison, Louise S Bicknell   +8 more
core   +1 more source

Infant Embryonal CNS Tumors: Molecular Insights and Treatment Considerations for Contemporary Pediatric Neuro‐Oncology

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Embryonal tumors comprise the majority of malignant central nervous system (CNS) neoplasms diagnosed in children under 3 years of age. Compared with their counterparts in older children, these tumors exhibit distinct molecular biology and a more aggressive clinical phenotype, while their management is complicated by the heightened ...
Sudarshawn Damodharan, Mariah Wright‐Nadkarni, Mohamed S. Abdelbaki, Girish Dhall   +3 more
wiley   +1 more source