Browsing by Keywords "Single nucleotide polymorphism"
Now showing items 1-13 of 13
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The BioPAX community standard for pathway data sharing
(Nature Publishing Group, 2010-09)Biological Pathway Exchange (BioPAX) is a standard language to represent biological pathways at the molecular and cellular level and to facilitate the exchange of pathway data. The rapid growth of the volume of pathway ... -
Demographically-based evaluation of genomic regions under selection in domestic dogs
(Public Library of Science, 2016)Controlling for background demographic effects is important for accurately identifying loci that have recently undergone positive selection. To date, the effects of demography have not yet been explicitly considered when ... -
Early postzygotic mutations contribute to de novo variation in a healthy monozygotic twin pair
(B M J Group, 2014)Background: Human de novo single-nucleotide variation (SNV) rate is estimated to range between 0.82-1.70×10-8 mutations per base per generation. However, contribution of early postzygotic mutations to the overall human de ... -
A global reference for human genetic variation
(Nature Publishing Group, 2015)The 1000 Genomes Project set out to provide a comprehensive description of common human genetic variation by applying whole-genome sequencing to a diverse set of individuals from multiple populations. Here we report ... -
Insights into autism spectrum disorder genomic architecture and biology from 71 risk loci
(Cell Press, 2015)Analysis of de novo CNVs (dnCNVs) from the full Simons Simplex Collection (SSC) (N = 2,591 families) replicates prior findings of strong association with autism spectrum disorders (ASDs) and confirms six risk loci (1q21.1, ... -
An integrated map of structural variation in 2,504 human genomes
(Nature Publishing Group, 2015)Structural variants are implicated in numerous diseases and make up the majority of varying nucleotides among human genomes. Here we describe an integrated set of eight structural variant classes comprising both balanced ... -
Integromic analysis of genetic variation and gene expression identifies networks for cardiovascular disease phenotypes
(Lippincott Williams & Wilkins, 2015)BACKGROUND - : Cardiovascular disease (CVD) reflects a highly coordinated complex of traits. Although genome-wide association studies have reported numerous single nucleotide polymorphisms (SNPs) to be associated with CVD, ... -
Inter-varietal structural variation in grapevine genomes
(Wiley-Blackwell Publishing Ltd., 2016)Grapevine (Vitis vinifera L.) is one of the world's most important crop plants, which is of large economic value for fruit and wine production. There is much interest in identifying genomic variations and their functional ... -
mrsFAST-Ultra: a compact, SNP-aware mapper for high performance sequencing applications
(Oxford University Press, 2014)High throughput sequencing (HTS) platforms generate unprecedented amounts of data that introduce challenges for processing and downstream analysis. While tools that report the 'best' mapping location of each read provide ... -
Mutations in RAD21 disrupt regulation of apob in patients with chronic intestinal pseudo-obstruction
(W.B. Saunders, 2015)Background Aims Chronic intestinal pseudo-obstruction (CIPO) is characterized by severe intestinal dysmotility that mimics a mechanical subocclusion with no evidence of gut obstruction. We searched for genetic variants ... -
Novel VLDLR microdeletion identified in two Turkish siblings with pachygyria and pontocerebellar atrophy
(Springer, 2010)Congenital ataxia with cerebellar hypoplasia is a heterogeneous group of disorders that presents with motor disability, hypotonia, incoordination, and impaired motor development. Among these, disequilibrium syndrome describes ... -
Oligonucleotide-based label-free detection with optical microresonators: strategies and challenges
(Royal Society of Chemistry, 2016)This review targets diversified oligonucleotide-based biodetection techniques, focusing on the use of microresonators of whispering gallery mode (WGM) type as optical biosensors mostly integrated with lab-on-a-chip systems. ... -
A utility maximizing and privacy preserving approach for protecting kinship in genomic databases
(Bilkent University, 2017-03)Rapid and low cost sequencing of genomic data enables widespread use of genomic information in research studies and personalized customer applications, where people share their genomic data in public databases. Although ...