Results 261 to 270 of about 237,110 (353)

Predicting venous thromboembolism risk from exomes in the Critical Assessment of Genome Interpretation (CAGI) challenges

, 2019
Gregory McInnes, Roxana Daneshjou, Panagiostis Katsonis, Olivier Lichtarge, Rajgopal Srinivasan, Sadhna Rana, Predrag Radivojac, Sean D. Mooney, Kymberleigh A. Pagel, Moses Stamboulian, Yuxiang Jiang, Emidio Capriotti, Yanran Wang, Yana Bromberg, Samuele Bovo, Castrense Savojardo, Pier Luigi Martelli, Rita Casadio, Lipika R. Pal, John Moult, Steven E. Brenner, Russ B. Altman   +21 more
openalex   +2 more sources

Whole Exom Sequenzierung [PDF]

, 2019
openaire   +1 more source

Identification of a De Novo MAGEL2 Pathogenic Variant in Schaaf–Yang Syndrome and the Importance of Paternal Allele Confirmation

Journal of Clinical Laboratory Analysis, EarlyView.
This study reports a de novo MAGEL2 pathogenic variant in a patient with Schaaf–Yang syndrome, confirmed through methylation‐sensitive analysis. Combining genomic sequencing with methylation assays helps accurately determine the parental origin of MAGEL2 mutations.
Youn‐Ji Hong, Misun Yang, Hyeon Jeong Kwon, Jooyoung Cha, Ja‐Hyun Jang, Sung Eun Wang, Eun Sun Lee, Mi‐Ae Jang   +7 more
wiley   +1 more source

Novel homozygous <i>C3orf67</i> gene variant associated with primary ciliary dyskinesia in a Saudi pediatric patient: A case report. [PDF]

World J Exp Med
Alkhadidi F, AlSharif H, AlQthami A, Alkhaldi SH, Alsuwat SA, Abosabie SA, Abosabie SA, Kamal NM.   +7 more
europepmc   +1 more source

Prenatal exome sequencing

, 2022
Sproule, Cathryn, Mone, Fionnuala
openaire   +1 more source

Whole-Exome Sequencing [PDF]

, 2019
openaire   +1 more source

Small Nucleotide Variant Analysis Using RNA Fusion Panel (SMURF): Making the Most of RNAseq Data in Solid Tumours

Journal of Clinical Laboratory Analysis, EarlyView.
RNA‐based fusion panels using targeted next‐generation sequencing of formalin‐fixed paraffin‐embedded (FFPE) tumour tissue specimens have been used for a few years from patients with various tumour types to detect rearrangements/fusions. Using the bioinformatic approaches the data obtained from RNA sequencing (RNAseq) can also be used for small ...
Pranav Dorwal, Julie Robin, Broden Krause, Patricia Pyrchla, Bin Yuan, Robert Quach, Anna Fong Na Goh, Pamela Htain, Noel Djitro, Amit Kumar, Liyan Song, Priscillia Siswara, Suzanne Svobodova, Peter Kaub, Beena Kumar   +14 more
wiley   +1 more source

MSH3 is a genetic modifier of somatic repeat instability in X-linked dystonia parkinsonism. [PDF]

Am J Hum Genet
Mejia Maza A, Hincher M, Correia K, Gillis T, Nishiyama A, Penney EB, Domingo A, Yadav R, Murcar MG, Villafria Mercado PD, Han JS, Norenberg EP, Fernandez-Cerado C, Legarda GP, Sy M, Muñoz EL, Ang MC, Diesta CCE, Go C, Sharma N, Bragg DC, Talkowski ME, MacDonald ME, Lee JM, Ozelius LJ, Wheeler VC.   +25 more
europepmc   +1 more source

Exome Capture with Heterologous Enrichment in Pig (Sus scrofa)

, 2015
Denis Guiatti, Elena Pomari, Slobodanka Radović, Alessandro Spadotto, Bruno Stefanon   +4 more
openalex   +2 more sources

Klippel‐Trénaunay‐Weber Syndrome: Prenatal Diagnosis and Review of the Literature

Journal of Clinical Ultrasound, Volume 53, Issue 3, Page 535-546, March/April 2025.
This meta‐analysis demonstrates the high diagnostic accuracy of SZ‐CEUS for differentiating between malignant and benign focal liver lesions, as well as for HCC from non‐HCC lesions. The study shows better performance for smaller lesions and those with a higher proportion of malignancy.
Giuliana Orlandi, Laura Sarno, Antonio Angelino, Mariarosaria Motta, Raffaella Di Girolamo, Luigi Carbone, Marika Rovetto, Laura Letizia Mazzarelli, Gabriella Sglavo, Francesco D' Antonio, Ilenia Mappa, Daniele Di Mascio, Giuseppe Rizzo, Giuseppe Maria Maruotti   +13 more
wiley   +1 more source