Results 211 to 220 of about 313,511 (298)

Decoding ancestry-specific genetic risk: interpretable deep feature selection reveals prostate cancer SNP disparities in diverse populations. [PDF]

BioData Min
Chen Z, Lao Z, Lu Y, Zhang W, Edwards A, Zhang K.   +5 more
europepmc   +1 more source

A rapid screening method for a single nucleotide polymorphism (SNP) in the human MOR gene [PDF]

, 2001
Sabine Grösch, Ellen Niederberger, Jörn Lötsch, Carsten Skarke, Gerd Geißlinger   +4 more
openalex   +1 more source

Novel Intragenic Duplication of GATAD2B in a Patient With GAND

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The nucleosome remodeling and deacetylation (NuRD) complex is a major chromatin regulator and plays a critical role in regulating gene transcription, genome integrity, and cell cycle progression. Heterozygous variants in GATAD2B, a core NuRD component, have been reported to cause GATAD2B‐Associated Neurodevelopmental Disorder (GAND), an ...
Mari Mori, Steven Estes, Swetha Ramadesikan, Betsy Schmalz, Shayne Plourde, Maria E. Hernandez Gonzalez, Anthony R. Miller, Bimal P. Chaudhari, Richard K. Wilson, Daniel C. Koboldt   +9 more
wiley   +1 more source

IMAGE001: A new livestock multispecies SNP array to characterize genomic variation in European livestock gene bank collections. [PDF]

Anim Genet
Crooijmans RPMA, Gonzalez Prendes R, Colli L, Del Corvo M, Barbato M, Somenzi E, Tosser-Klopp G, Meszaros G, Ajmone-Marsan P, Weigend S, Wallner B, McCue ME, Orlando L, Bradley D, Hiemstra SJ, Schokker D, Peynot N, Stella A, Restoux G, Groenen MAM, Tixier-Boichard M.   +20 more
europepmc   +1 more source

Allele-specific binding of the ubiquitous transcription factor OCT-1 to the functional single nucleotide polymorphism (SNP) sites in the tumor necrosis factor-alpha gene (TNFA) promoter

, 2001
Hirohiko Hohjoh, Katsushi Tokunaga
openalex   +1 more source

A semi-automated system for analysis and storage of SNPs [PDF]

, 2001
Valerie Lehnert, James A. Holzwarth, Michael Ott, Annick Thompson, Sabine Demmak, Dorothee Foernzler   +5 more
openalex   +1 more source

Exonic Variation and Its Clinical Impact in 7221 Old Order Amish

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The Amish of Lancaster County, PA has been the focus of genetic studies for many years due to its demographic history and unique genetic makeup that includes a historical bottleneck event and subsequent genetic drift, resulting in a marked decrease in genetic diversity and increased frequency of some variants that have substantially shaped the
Braxton D. Mitchell, Ebuka Onyenobi, Joshua P. Lewis, Brady Gaynor, James A. Perry, Kristin Maloney, Jeffrey R. O'Connell, Jessica Tiner, Amber L. Beitelshees, Cristopher V. Van Hout, Patrick F. McArdle, Huichun Xu, Erik G. Puffenberger, Karlla W. Brigatti, Melanie Daue, Hilary B. Whitlatch, Anna Alkelai, Alejandro A. Schäffer, John Overton, Elizabeth A. Streeten, Toni I. Pollin, Alan R. Shuldiner   +21 more
wiley   +1 more source

Genome-wide association study reveals candidate loci on ECA1 and ECA9 for withers height in Friesian horses. [PDF]

Anim Genet
Steensma MJ, Doekes HP, Derks MFL, Ducro BJ.   +3 more
europepmc   +1 more source

De Novo Variants in PPFIA2 in Individuals With Neurodevelopmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Liprin‐α2, encoded by PPFIA2, belongs to the family of Liprin‐α proteins which constitute major synaptic scaffolds participating in the assembly and maturation of synapses. Heterozygous de novo variants in PPFIA2 were identified by exome or genome sequencing in two unrelated individuals with a neurodevelopmental disorder.
Theresa Brunet, Michael Zech, Ulrich A. Schatz, Miriam Adamovičová, Matias Wagner, Elisabeth Graf, Riccardo Berutti, Heike Weigand, Robert Jech, Thomas Meitinger, Juliane Winkelmann, Melanie Brugger   +11 more
wiley   +1 more source

Genome-wide association study and genome prediction of tallness trait in spinach phenotyping. [PDF]

Front Plant Sci
Alatawi I, Xiong H, Alkabkabi H, Chiwina K, Mou B, Luo Q, Qu Y, Du R, Riaz A, Harrison DJ, Shi A.   +10 more
europepmc   +1 more source