Results 41 to 50 of about 825,099 (241)

Genome sequencing as a generic diagnostic strategy for rare disease

Genome Medicine
Background To diagnose the full spectrum of hereditary and congenital diseases, genetic laboratories use many different workflows, ranging from karyotyping to exome sequencing.
Gaby Schobers, Ronny Derks, Amber den Ouden, Hilde Swinkels, Jeroen van Reeuwijk, Ermanno Bosgoed, Dorien Lugtenberg, Su Ming Sun, Jordi Corominas Galbany, Marjan Weiss, Marinus J. Blok, Richelle A. C. M. Olde Keizer, Tom Hofste, Debby Hellebrekers, Nicole de Leeuw, Alexander Stegmann, Erik-Jan Kamsteeg, Aimee D. C. Paulussen, Marjolijn J. L. Ligtenberg, Xiangqun Zheng Bradley, John Peden, Alejandra Gutierrez, Adam Pullen, Tom Payne, Christian Gilissen, Arthur van den Wijngaard, Han G. Brunner, Marcel Nelen, Helger G. Yntema, Lisenka E. L. M. Vissers   +29 more
doaj   +1 more source

The Quantitative Genetics of Human Disease: 1 Foundations [PDF]

arXiv, 2023
In this the first of an anticipated four paper series, fundamental results of quantitative genetics are presented from a first principles approach. While none of these results are in any sense new, they are presented in extended detail to precisely distinguish between definition and assumption, with a further emphasis on distinguishing quantities from ...
arxiv  

A weighted U statistic for association analysis considering genetic heterogeneity [PDF]

, 2015
Converging evidence suggests that common complex diseases with the same or similar clinical manifestations could have different underlying genetic etiologies. While current research interests have shifted toward uncovering rare variants and structural variations predisposing to human diseases, the impact of heterogeneity in genetic studies of complex ...
arxiv   +1 more source

Open Problems in Human Trait Genetics [PDF]

arXiv, 2021
Genetic studies of human traits have revolutionized our understanding of the variation between individuals, and opened the door for numerous breakthroughs in biology, medicine and other scientific fields. And yet, the ultimate promise of this area of research is still not fully realized. In this review, we highlight the major open problems that need to
arxiv  

Multivariate adaptive shrinkage improves cross-population transcriptome prediction and association studies in underrepresented populations

HGG Advances, 2023
Summary: Transcriptome prediction models built with data from European-descent individuals are less accurate when applied to different populations because of differences in linkage disequilibrium patterns and allele frequencies.
Daniel S. Araujo, Chris Nguyen, Xiaowei Hu, Anna V. Mikhaylova, Chris Gignoux, Kristin Ardlie, Kent D. Taylor, Peter Durda, Yongmei Liu, George Papanicolaou, Michael H. Cho, Stephen S. Rich, Jerome I. Rotter, Hae Kyung Im, Ani Manichaikul, Heather E. Wheeler   +15 more
doaj  

Burden of Mendelian disorders in a large Middle Eastern biobank

Genome Medicine
Background Genome sequencing of large biobanks from under-represented ancestries provides a valuable resource for the interrogation of Mendelian disease burden at world population level, complementing small-scale familial studies.
Waleed Aamer, Aljazi Al-Maraghi, Najeeb Syed, Geethanjali Devadoss Gandhi, Elbay Aliyev, Alya A. Al-Kurbi, Omayma Al-Saei, Muhammad Kohailan, Navaneethakrishnan Krishnamoorthy, Sasirekha Palaniswamy, Khulod Al-Malki, Saleha Abbasi, Nourhen Agrebi, Fatemeh Abbaszadeh, Ammira S. Al-Shabeeb Akil, Ramin Badii, Tawfeg Ben-Omran, Bernice Lo, The Qatar Genome Program Research Consortium, Younes Mokrab, Khalid A. Fakhro   +20 more
doaj   +1 more source

A functional genomics pipeline identifies pleiotropy and cross-tissue effects within obesity-associated GWAS loci

Nature Communications, 2021
Many genetic loci have been linked to obesity, but knowledge of their functional mechanisms is limited. Here, the authors perform reporter assays and temporal functional genomics data generation to characterize obesity genetic loci and find that loci ...
Amelia C. Joslin, Débora R. Sobreira, Grace T. Hansen, Noboru J. Sakabe, Ivy Aneas, Lindsey E. Montefiori, Kathryn M. Farris, Jing Gu, Donna M. Lehman, Carole Ober, Xin He, Marcelo A. Nóbrega   +11 more
doaj   +1 more source

A Kernel-Based Neural Network for High-dimensional Genetic Risk Prediction Analysis [PDF]

arXiv, 2021
Risk prediction capitalizing on emerging human genome findings holds great promise for new prediction and prevention strategies. While the large amounts of genetic data generated from high-throughput technologies offer us a unique opportunity to study a deep catalog of genetic variants for risk prediction, the high-dimensionality of genetic data and ...
arxiv  

Case Report: Identification of a Novel Heterozygous Missense Mutation in COL4A3 Gene Causing Variable Phenotypes in an Autosomal-Dominant Alport Syndrome Family

Frontiers in Genetics, 2022
Alport syndrome (AS) is a genetic kidney disease of basement membrane collagen disorder accounting for approximately 2% of ESRD patients. Next-generation and whole-exome sequencing methods are increasingly frequently used as an efficient tool not only ...
Yanglin Hu, Wei Li, Lulu Tian, Shuai Fu, Yonglong Min, Jia Liu, Fei Xiong   +6 more
doaj   +1 more source

The language of race, ethnicity, and ancestry in human genetic research [PDF]

arXiv, 2021
The language commonly used in human genetics can inadvertently pose problems for multiple reasons. Terms like "ancestry", "ethnicity", and other ways of grouping people can have complex, often poorly understood, or multiple meanings within the various fields of genetics, between different domains of biological sciences and medicine, and between ...
arxiv