Results 51 to 60 of about 295,678 (328)

inPHAP: Interactive visualization of genotype and phased haplotype data [PDF]

, 2014
Background: To understand individual genomes it is necessary to look at the variations that lead to changes in phenotype and possibly to disease. However, genotype information alone is often not sufficient and additional knowledge regarding the phase of ...
Jäger, Günter, Nieselt, Kay, Peltzer, Alexander   +2 more
core   +3 more sources

A Bayesian Hierarchical Model for Detecting Haplotype-Haplotype and Haplotype-Environment Interactions in Genetic Association Studies [PDF]

Human Heredity, 2011
<i>Objective: </i>Genetic association studies based on haplotypes are powerful in the discovery and characterization of the genetic basis of complex human diseases. However, statistical methods for detecting haplotype-haplotype and haplotype-environment interactions have not yet been fully developed owing to the difficulties encountered ...
Nengjun Yi, Jun Li, Kui Zhang
openaire   +3 more sources

CLAE: A High‐Fidelity Nanopore Sequencing Strategy for Read‐Level Viral Variant Detection and Environmental RNA Virus Discovery

Advanced Science, EarlyView.
High‐fidelity Nanopore sequencing offers a cost‐effective, portable path to uncovering viral dark matter in complex environments—but suffers from severe read‐length bias, low throughput, and limited accuracy. This study traces these limitations to core biochemical barriers and introduces CLAE, a foundational high‐fidelity platform that enables accurate,
Hannah Yu, Sarah Golconda, Ga‐Eun Lee, Dantong Xue, Guillermo Domínguez‐Huerta, James M. Wainaina, Benjamin Bolduc, Shashanka Murthy, Shihyoung Kim, Seth Faith, Shan‐Lu Liu, Jiyoung Lee, Michael Oglesbee, Matthew B Sullivan, Sanggu Kim   +14 more
wiley   +1 more source

Clinical and Metabolic Signatures of FAM47E–SHROOM3 Haplotypes in a General Population Sample

Kidney International Reports
Introduction: Genome-wide association studies (GWAS) identified a locus on chromosome 4q21.1, spanning the Family With Sequence Similarity 47 Member E (FAM47E), Starch Binding Domain 1 (STBD1), Coiled-Coil Domain Containing 158 (CCDC158), and Shroom ...
Dariush Ghasemi-Semeskandeh, Eva König, Luisa Foco, Nikola Dordevic, Martin Gögele, Johannes Rainer, Markus Ralser, Dianne Acoba, Francisco S. Domingues, Dorien J.M. Peters, Peter P. Pramstaller, Cristian Pattaro   +11 more
doaj   +1 more source

A Natural Major Module Confers the Trade‐Off between Phenotypic Mean and Plasticity of Grain Chalkiness in Rice

Advanced Science, EarlyView.
This study reveals the genetic and molecular mechanisms controlling the general trade‐off between phenotypic mean and plasticity of grain chalkiness in rice and identifies two major external drivers (high temperature and wide grain) and a natural major module (GCP6‐MPC5) that control this trade‐off.
Juncheng Zhang, Yu Du, Pengkun Xu, Luyu Zhong, Zhi Li, Wenran Zhu, Yicheng Li, Bo Cheng, Xinyuan Chang, Yawei Fan, Yibo Li   +10 more
wiley   +1 more source

Steelhead (Oncorhynchus mykiss) lineages and sexes show variable patterns of association of adult migration timing and age‐at‐maturity traits with two genomic regions

Evolutionary Applications, 2020
As life history diversity plays a critical role in supporting the resilience of exploited populations, understanding the genetic basis of those life history variations is important for conservation management.
Stuart C. Willis, Jon E. Hess, Jeff K. Fryer, John M. Whiteaker, Chris Brun, Ryan Gerstenberger, Shawn R. Narum   +6 more
doaj   +1 more source

T2T Genomes Unveil Centromere Architecture and Adaptive Divergence in Large Yellow Croaker (Larimichthys crocea)

Advanced Science, EarlyView.
This study presents telomere‐to‐telomere genome assemblies for two populations of Larimichthys crocea. We identified centromere‐specific tandem repeats invaded by LTR/ERV1 retrotransposons, unique 5S rRNA enrichment patterns, and population‐specific structural variants. Comparative genomic analyses further reveal distinct adaptive mechanisms in the MYD
Yu Cui, Yingbo Yuan, Bi Wang, Baolan Wu, Mingyi Cai, Ming Fang, Weiliang Shen, Xiongfei Wu, Fang Han, Zhiyong Wang   +9 more
wiley   +1 more source

Family-Based Haplotype Estimation and Allele Dosage Correction for Polyploids Using Short Sequence Reads

Frontiers in Genetics, 2019
DNA sequence reads contain information about the genomic variants located on a single chromosome. By extracting and extending this information using the overlaps between the reads, the haplotypes of an individual can be obtained.
Ehsan Motazedi, Ehsan Motazedi, Chris Maliepaard, Richard Finkers, Richard Visser, Dick de Ridder   +5 more
doaj   +1 more source

Haplotype-aware graph indexes [PDF]

Bioinformatics, 2019
AbstractMotivationThe variation graph toolkit (VG) represents genetic variation as a graph. Although each path in the graph is a potential haplotype, most paths are nonbiological, unlikely recombinations of true haplotypes.ResultsWe augment the VG model with haplotype information to identify which paths are more likely to exist in nature.
Richard Durbin, Richard Durbin, Benedict Paten, Erik Garrison, Adam M. Novak, Jouni Sirén, Jouni Sirén   +6 more
openaire   +12 more sources

Comprehensive Genetic Map of Muscle Lipidome Reveals Novel Insights Into Flavor Variation in Ruminant Meat

Advanced Science, EarlyView.
Ruminant meat is widely appreciated for its distinctive flavor. Lipids play a central role in influencing meat flavor, yet their genetic and biochemical basis remains largely unexplored. Here, a comprehensive lipid genetic map of sheep muscle is constructed and 20 candidate genes potentially modulating lipid levels are identified to provide a roadmap ...
Xueying Zhang, Yuanyuan Kong, Jialei Chen, Ran Li, Zhongyu Wang, Yali Song, Tianshu Dai, Yuxin Fu, Beixiang Jiang, Jize Zeng, Shengwei Pei, Yangkai Liu, Qianjie Feng, Weiwei Fu, Zehu Yuan, Joram Mwashigadi Mwacharo, Fadi Li, Xiangpeng Yue   +17 more
wiley   +1 more source