Results 51 to 60 of about 184,242 (260)

Optimized Cas9‐Enriched Nanopore Sequencing and Analysis Workflow for Clinical Diagnosis of Repeat Expansion Disorders

Advanced Science, EarlyView.
An optimized Cas9‐enriched nanopore sequencing workflow, combined with STRiker, enables simultaneous analysis of disease‐associated STR loci from patient blood. The nCATS–STRiker workflow detects repeat expansions, de novo repeat motifs, interruption patterns, and methylation in a single assay, improving the genetic diagnosis of previously undiagnosed ...
Seungbok Lee, Chanju Jung, Minjeong Kim, Narae Kim, Gue‐Ho Hwang, Soon‐Tae Lee, Kon Chu, Sang Kun Lee, Han‐Joon Kim, Jong‐Hee Chae, Sangsu Bae, Jangsup Moon   +11 more
wiley   +1 more source

Relationship between NAFLD and coronary artery disease: A Mendelian randomization study

Hepatology, EarlyView., 2022
Abstract Background and Aims There is an ongoing debate on whether NAFLD is an active contributor or an innocent bystander in the pathogenesis of coronary artery disease (CAD). The aim of the present study was to assess the causal relationship between NAFLD and CAD.
Zhewen Ren, Pomme I. H. G. Simons, Anke Wesselius, Coen D. A. Stehouwer, Martijn C. G. J. Brouwers   +4 more
wiley   +1 more source

Prediction of genetic gain from quadratic optimisation with constrained rates of inbreeding [PDF]

, 2006
There are selection methods available that allow the optimisation of genetic contributions of selection candidates for maximising the rate of genetic gain while restricting the rate of inbreeding. These methods imply selection on quadratic indices as the
Avendano, S, John A. Woolliams, Woolliams John A, Avendaño Santiago, John A Woolliams, Villanueva Beatriz, Woolliams, JA, Villanueva, B., Beatriz Villanueva, Villanueva, B, Woolliams, John, Avenano, S., Santiago Avendaño   +12 more
core   +1 more source

Results of intermediate Mendelian randomisation analysis.

, 2023
Results of intermediate Mendelian randomisation analysis.
Xin Huang (11077), Yong Xiong (313431), Xiaohong Zhou (62510), Weiwei Ma (665256)   +3 more
core   +1 more source

TECTB Variants Reveal Tectorial Membrane Vulnerability in Dominant Non‐Syndromic Hearing Loss

Advanced Science, EarlyView.
TECTB is a non‐collagenous protein of the tectorial membrane – an extracellular matrix of the cochlea. This study identifies dominant missense variants in TECTB linked to human hereditary deafness in two unrelated families. Genetically engineered mice homozygous for one of the variants are profoundly deaf, whereas heterozygous mice have normal hearing ...
Evan B. Hale, Barbara Vona, Richard J. Goodyear, Richard T. Osgood, Jun Shen, Sami S. Amr, Karen Mojica, Michaela A. H. Hofrichter, Jörg Schröder, Sophie Flandin, Paul Gratias, Ricardo Vera‐Monroy, Katherine Callahan, Kerry L. Gudlewski, Rolen Quadros, Masato Ohtsuka, JoAnn McGee, Edward J. Walsh, Cynthia C. Morton, Thomas Haaf, Channabasavaiah Gurumurthy, James E. Saunders, Guy P. Richardson, Artur A. Indzhykulian   +23 more
wiley   +1 more source

Genetic predisposition to porto‐sinusoidal vascular disorder: A functional genomic‐based, multigenerational family study

Hepatology, EarlyView., 2022
A deleterious variant of FCHSD1 results in mTOR pathway overactivation and may cause porto‐sinusoidal vascular disorder (PSVD). The pedigree of the family demonstrated an autosomal dominant disease with variable expressivity. Whole‐genome sequencing and Sanger sequencing both validated the existence of the FCHSD1 variant and the heterozygosity of c ...
Jingxuan Shan, André Megarbane, Aziz Chouchane, Deepak Karthik, Ramzi Temanni, Atilio Reyes Romero, Huiying Hua, Chun Pan, Xixi Chen, Murugan Subramanian, Chadi Saad, Hamdi Mbarek, Cybel Mehawej, Eliane Chouery, Sirin W. Abuaqel, Alexander Dömling, Sami Remadi, Cesar Yaghi, Pu Li, Lotfi Chouchane   +19 more
wiley   +1 more source

Human papilloma virus infection drives unique metabolic and immune profiles in head and neck and cervical cancers: implications for targeted therapies and prognostic markers

Discover Oncology
Human papillomavirus (HPV) is a key driver of head and neck squamous cell carcinoma (HNSCC) and cervical squamous cell carcinoma (CESC). Yet, these cancers exhibit distinct molecular and clinical features influenced by HPV status. This study utilizes RNA
Saira Hamid, Mohd Shahnawaz Khan, Meraj Alam Khan, Naoshad Muhammad, Mayank Singh, Ammira S. Al-Shabeeb Akil, Ajaz A. Bhat, Muzafar A. Macha   +7 more
doaj   +1 more source

Study on the causal relationship between educational attainment and delirium: A two-sample Mendelian randomization study

Heliyon
This study aimed to investigate whether there is a causal relationship between educational attainment and delirium at the genetic level using the Mendelian randomization method, and provide new evidence for studies in this field.
Xianjie Wan, Hui Yu, Mingyi Yang, Weikun Hou, Jiale Xie, Ke Xu, Yujie Ma, Rui Ma, Fan Wang, Peng Xu   +9 more
doaj   +1 more source

Simultaneous estimation of bi-directional causal effects and heritable confounding from GWAS summary statistics

Nature Communications, 2021
Mendelian Randomization approaches are being increasingly refined, but certain statistical limitations hinder their application to GWAS. Here, the authors propose a new Mendelian Randomization method to estimate bi- directional causal effects and ...
Liza Darrous, Ninon Mounier, Zoltán Kutalik   +2 more
doaj   +1 more source

Mendelian randomization approach.

, 2013
Mendelian randomization approach.
Akshay Anand (118579), Amod Gupta (118583), Suresh Kumar Sharma (118585), Sudesh Prabhakar (118584), Neel Kamal Sharma (118581), Ramandeep Singh (118586), Wei Chen (23863)   +6 more
core   +1 more source