Results 201 to 210 of about 178,485 (305)

Whole‐exome sequencing uncovers new variants in GDF15 associated with hyperemesis gravidarum

, 2022
Marlena S. Fejzo, Kimber MacGibbon, Olivia First, Courtney Quan, Patrick Mullin   +4 more
openalex   +2 more sources

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

Genetic analysis of fetal skeletal dysplasia via whole exome sequencing and non-invasive prenatal diagnosis. [PDF]

Ann Med
Wang L, Zhang Y, Zheng F, Dong H, Zhu X, Jia C, Zhang B.   +6 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

Application of family whole-exome sequencing for prenatal diagnosis-an analysis of 357 cases. [PDF]

Front Med (Lausanne)
Ge Y, Yuan H, Yu Y, Xiao J, Liu D, Peng Y, Liu Y, Huang S, Yang B, Zou Y, Liu Y.   +10 more
europepmc   +1 more source

Genetic Diagnostic Evaluation of Trio-Based Whole Exome Sequencing Among Children With Diagnosed or Suspected Autism Spectrum Disorder

, 2018
Xiujuan Du, Xueren Gao, Xin Liu, Lixiao Shen, Kai Wang, Yanjie Fan, Yu Sun, Xiaomei Luo, Huili Liu, Lili Wang, Yu Wang, Zhuwen Gong, Jianguo Wang, Yongguo Yu, Fēi Li   +14 more
openalex   +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

Expanding the Genetic Spectrum of Non-Syndromic Cleft Lip and Palate Through Whole-Exome Sequencing. [PDF]

Int J Mol Sci
Biedziak B, Dąbrowska J, Bogdanowicz A, Karbowska K, Mostowska A.   +4 more
europepmc   +1 more source

Undetectable C1Q, hyper-IgM, hypogammaglobulinemia: whole exome sequencing reveals pathogenic variant in magnesium transporter 1 (MAGT1)

SL Leo, Jariya Upadia, S. Valley, L. A. Wall   +3 more
openalex   +1 more source

Transforming healthcare with large language models: Current applications, challenges, and future directions—a literature review

Journal of Intelligent Medicine, EarlyView.
Abstract AI‐based large language models (LLMs) have gradually made their way into various fields, transforming industries and changing the way we solve problems. LLMs have great potential in healthcare, where they can share the burden of data management, retrieval, and decision‐making.
Muhammad Umar, Vanessa Ali, Laiba Shamim, Imshaal Musharaf, Rabia Hafsa, Muhammad Umar Ahsan, Osama Ahmad, Lamea Bint Sabhan, Muhammad Saeed, Somaiya Ahmed, Sana Iftikhar, Noor Ul Ain   +11 more
wiley   +1 more source