Results 211 to 220 of about 178,713 (349)

Whole exome sequencing και υπογονιμότητα

Infertility is a complex condition that affects millions of people worldwide. Of particular importance is the fact that genetic factors appear to play an important role. The present study aims to examine the clinical utility of the Whole Exome Sequencing (WES) method for diagnosing genetic causes of infertility, as well as whether this technique can ...
openaire   +1 more source

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

Whole-Exome Sequencing Identifies Novel Genetic Variants Associated with Unexplained Neurodevelopmental Disorders in Children. [PDF]

Int J Mol Sci
Mancuso G, Serventi L, Cocco C, Lai F, Soddu C, Marica M, Mereu C, Lorrai M, Tosone GM, Cannas F, Nutile G, Floris M, Savasta S, Giglio S.   +13 more
europepmc   +1 more source

Genomic signature driving preinvasive to invasive processes in stage I lung adenocarcinoma

International Journal of Cancer, EarlyView.
What's New? The progression of lung cancer from minimally invasive adenocarcinoma (MIA) to invasive adenocarcinoma (IA) is a complex process involving molecular and microenvironment changes. Key molecular events that drive the invasion process, however, remain poorly characterized. In this comparison of gene profiles and differentially mutated genes in
Biqin Mou, Yishan Duan, Jing Wang, Tiantian Li, Yuwei Huo, Xia Xiao, Conghui Cui, Zhujun Deng, Qiongxia Hu, Juan Jiang, Yiwei Liang, Sifen Lu, Xintong Tao, Kang Xie, Xinru Xiong, Niu Zhu, Liyun Bi, Faqiang Zhang, Weimin Li, Bojiang Chen   +19 more
wiley   +1 more source

Genome Variation in Alcohol Use Disorder by Whole-Exome Sequencing. [PDF]

Addict Biol
Liu L, Zhang B, Dong Y, Liu LP, Wang JY, Liu J, Zhou GY, Kang CY, Hu X, Cheng C, Zhao N, Lu J, Wang H, Hu J, Wang X.   +14 more
europepmc   +1 more source

Chinese pan‐cancer patient genomic characteristics: A comprehensive analysis based on the National Cancer Center–Clinical Diagnostics Knowledgebase real‐world clinical sequencing cohort

Interdisciplinary Medicine, EarlyView.
We assembled National Cancer Center–Clinical Diagnostics Knowledgebase, a clinical genomic knowledgebase of 6935 tumors with matched normal samples, revealing key somatic alterations and actionable variants (70.2% of the cohort). Enrichment of certain different gene mutations was observed between Chinese and American populations, along with a strong ...
Hongrui Li, Shun Wang, Guowei Zhao, Jiangtao Li, Xin Li, Bingning Wang, Yi Zhang, Mengfei Yao, Lei Guo, Jianming Ying, Wenbin Li   +10 more
wiley   +1 more source

A case of Baraitser-Winter cerebrofrontofacial syndrome diagnosed by whole-exome sequencing. [PDF]

Hum Genome Var
Suga K, Sato H, Suzue M, Honma Y, Hayabuchi Y, Nakagawa R, Shinomiya K, Okamoto N, Inoue Y, Tsuchida N, Matsumoto N, Morino H, Izumi Y, Urushihara M.   +13 more
europepmc   +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

Whole exome sequencing in pediatric hyperammonemia: significant diagnostic yield and identification of three novel variants. [PDF]

BMC Med Genomics
Hajati R, Hashemian F, Salehpour S, Sayad A.   +3 more
europepmc   +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