Results 111 to 120 of about 120,949 (314)

Identification of Transdiagnostic Childhood Externalizing Pathology Within an Electronic Medical Records Database and Application to the Analysis of Rare Copy Number Variation

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Externalizing traits and behaviors are broadly defined by impairments in self‐regulation and impulse control that typically begin in childhood and adolescence. Externalizing behaviors, traits, and symptoms span a range of traditional psychiatric diagnostic categories.
India A. Reddy, Lide Han, Sandra Sanchez‐Roige, Maria Niarchou, Douglas M. Ruderfer, Lea K. Davis   +5 more
wiley   +1 more source

Toward genome-wide SNP genotyping [PDF]

Nature Genetics, 2005
Genome-wide association studies with SNP markers are expected to allow identification of genes that underlie complex disorders. Hundreds of thousands of SNP markers will be required for comprehensive genome-wide association studies. The development of microarray-based methods for SNP genotyping on this scale remains a demanding task, despite many ...
openaire   +3 more sources

Association Between Polygenic Risk and Symptom Severity Change After Cognitive Behavioral Therapy for Obsessive‐Compulsive Disorder

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT A large proportion of patients undergoing cognitive behavior therapy (CBT) for obsessive‐compulsive disorder (OCD) do not respond sufficiently to treatment. Identifying predictors for change in symptom severity after treatment could inform clinical decision‐making, allow for better‐tailored interventions, and avoid treatment failure.
Julia Bäckman, John Wallert, Matthew Halvorsen, Bjorn Roelstraete, Elles de Schipper, Nora I. Strom, Thorstein Olsen Eide, Kira D. Höffler, Manuel Mattheisen, Bjarne Hansen, Gerd Kvale, Kristen Hagen, Jan Haavik, Nordic OCD and Related Disorders Consortium (NORDiC), Julia Bäckman, Long Long Chen, James J. Crowley, Elles de Schipper, Diana Pascal, Jan Haavik, Kristen Hagen, Matthew W. Halvorsen, Bjarne Hansen, Kira D. Höffler, Fredrik Johansson, Anna K. Kähler, Elinor K. Karlsson, Gerd Kvale, Paul Lichtenstein, Kerstin Lindblad‐Toh, Manuel Mattheisen, David Mataix‐Cols, Kathleen Morrill, Christian Rück, Thorstein Olsen Eide, Nora I. Strom, John Wallert, David Mataix‐Cols, Christian Rück, James J. Crowley   +39 more
wiley   +1 more source

A simple genome-wide association study algorithm [PDF]

arXiv, 2017
A computationally simple genome-wide association study (GWAS) algorithm for estimating the main and epistatic effects of markers or single nucleotide polymorphisms (SNPs) is proposed. It is based on the intuitive assumption that changes of alleles corresponding to important SNPs in a pair of individuals lead to large difference of phenotype values of ...
arxiv  

A Transcriptome‐Wide Mendelian Randomization Study in Isolated Human Immune Cells Highlights Risk Genes Involved in Viral Infections and Potential Drug Repurposing Opportunities for Schizophrenia

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Schizophrenia is a neurodevelopmental psychiatric disorder characterized by symptoms of psychosis, thought disorder, and flattened affect. Immune mechanisms are associated with schizophrenia, though the precise nature of this relationship (causal, correlated, consequential) and the mechanisms involved are not fully understood.
David Stacey, Liam Gaziano, Preethi Eldi, Catherine Toben, Beben Benyamin, S. Hong Lee, Elina Hyppönen   +6 more
wiley   +1 more source

Prim-SNPing: a primer designer for cost-effective SNP genotyping

BioTechniques, 2009
Many kinds of primer design (PD) software tools have been developed, but most of them lack a single nucleotide polymorphism (SNP) genotyping service.
Hsueh-Wei Chang, Li-Yeh Chuang, Yu-Huei Cheng, Yu-Chen Hung, Cheng-Hao Wen, De-Leung Gu, Cheng-Hong Yang   +6 more
doaj   +1 more source

Non‐Invasive Prenatal Testing by Cell‐Free DNA (cfNIPT) for Detecting Turner Syndrome With Mosaicism and Structural Variants—Prenatal Findings and Postnatal Outcomes

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Turner Syndrome (TS) is a sex chromosomal disorder associated with karyotype heterogeneity. Although TS can be associated with severe prenatal findings, most often linked to the 45, X karyotype, the majority of TS fetuses have no overt phenotype, resulting in delayed diagnosis and management.
Ivonne Bedei, Johanna Bruder, Ida C. B. Lund, Simon H. Thomsen, Ida Vogel, Andrea T. Maciel‐Guerra, Francisco Alvarez‐Nava, Melissa L. Crenshaw, Roland Axt‐Fliedner, Claus H. Gravholt, Anne Skakkebæk   +10 more
wiley   +1 more source

Using single molecule Molecular Inversion Probes as a cost‐effective, high‐throughput sequencing approach to target all genes and loci associated with macular diseases

Human Mutation, Volume 43, Issue 12, Page 2234-2250, December 2022., 2022
Abstract Macular degenerations (MDs) are a subgroup of retinal disorders characterized by central vision loss. Knowledge is still lacking on the extent of genetic and nongenetic factors influencing inherited MD (iMD) and age‐related MD (AMD) expression.
Rebekkah J. Hitti‐Malin, Claire‐Marie Dhaenens, Daan M. Panneman, Zelia Corradi, Mubeen Khan, Anneke I. den Hollander, G. Jane Farrar, Christian Gilissen, Alexander Hoischen, Maartje van de Vorst, Femke Bults, Erica G. M. Boonen, Patrick Saunders, MD Study Group, Susanne Roosing, Frans P. M. Cremers   +15 more
wiley   +1 more source

Model SNP development for complex genomes based on hexaploid oat using high-throughput 454 sequencing technology

BMC Genomics, 2011
Background Genetic markers are pivotal to modern genomics research; however, discovery and genotyping of molecular markers in oat has been hindered by the size and complexity of the genome, and by a scarcity of sequence data.
Chao Shiaoman, Brown Guedira Gina L, Maughan P Jeffrey, Jellen Eric N, Adhikary Dinesh, Wisniewski Morehead Nicole H, Anderson Joseph M, Tinker Nicholas A, Rubenfield Marc J, Lutz Joseph D, Lazo Gerard R, Oliver Rebekah E, Beattie Aaron D, Carson Martin L, Rines Howard W, Obert Donald E, Bonman J Michael, Jackson Eric W   +17 more
doaj   +1 more source

GeneZip: A software package for storage-efficient processing of genotype data [PDF]

arXiv, 2013
Genome wide association studies directly assay 10^6 single nucleotide polymorphisms (SNPs) across a study cohort. Probabilistic estimation of additional sites by genotype imputation can increase this set of variants by 10- to 40-fold. Even with modest sample sizes (10^3-10^4), these resulting imputed datasets, containing 10^10-10^11 double-precision ...
arxiv