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Spatially explicit analysis reveals complex human genetic gradients in the Iberian Peninsula
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| 2 |
Developmental social communication deficits in the Shank3 rat model of phelan-mcdermid syndrome and autism spectrum disorder.
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In: Autism research : official journal of the International Society for Autism Research, vol 11, iss 4 (2018)
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Non-invasive measurement of mRNA decay reveals translation initiation as the major determinant of mRNA stability
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Paraplangia sinespeculo, a new genus and species of bush-cricket, with notes on its biology and a key to the genera of Phaneropterinae (Orthoptera: Tettigonioidea) from Madagascar
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Y chromosomal evidence on the origin of northern Thai people.
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In: PloS one, vol 12, iss 7 (2017)
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7p22.1 microduplication syndrome: Refinement of the critical region.
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| 7 |
Coevolution of genes and languages and high levels of population structure among the highland populations of Daghestan.
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In: Journal of human genetics, vol 61, iss 3 (2016)
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| 8 |
A human neurodevelopmental model for Williams syndrome.
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In: Nature, vol 536, iss 7616 (2016)
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| 9 |
A human neurodevelopmental model for Williams syndrome.
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In: Nature, vol 536, iss 7616 (2016)
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| 10 |
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
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In: American journal of human genetics, vol 99, iss 3 (2016)
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| 11 |
Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities.
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In: Jama Psychiatry, vol. 73, no. 1, pp. 20-30 (2016)
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| 12 |
The Number of Genomic Copies at the 16p11.2 Locus Modulates Language, Verbal Memory, and Inhibition.
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In: Biological psychiatry, vol. 80, no. 2, pp. 129-139 (2016)
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| 13 |
Genetic heritage of the balto-slavic speaking populations: a synthesis of autosomal, mitochondrial and Y-chromosomal data
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| 14 |
A novel multi-alignment pipeline for high-throughput sequencing data.
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In: Database : the journal of biological databases and curation, vol 2014, iss 0 (2014)
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Abstract:
Mapping reads to a reference sequence is a common step when analyzing allele effects in high-throughput sequencing data. The choice of reference is critical because its effect on quantitative sequence analysis is non-negligible. Recent studies suggest aligning to a single standard reference sequence, as is common practice, can lead to an underlying bias depending on the genetic distances of the target sequences from the reference. To avoid this bias, researchers have resorted to using modified reference sequences. Even with this improvement, various limitations and problems remain unsolved, which include reduced mapping ratios, shifts in read mappings and the selection of which variants to include to remove biases. To address these issues, we propose a novel and generic multi-alignment pipeline. Our pipeline integrates the genomic variations from known or suspected founders into separate reference sequences and performs alignments to each one. By mapping reads to multiple reference sequences and merging them afterward, we are able to rescue more reads and diminish the bias caused by using a single common reference. Moreover, the genomic origin of each read is determined and annotated during the merging process, providing a better source of information to assess differential expression than simple allele queries at known variant positions. Using RNA-seq of a diallel cross, we compare our pipeline with the single-reference pipeline and demonstrate our advantages of more aligned reads and a higher percentage of reads with assigned origins. Database URL: http://csbio.unc.edu/CCstatus/index.py?run=Pseudo.
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Keyword:
Alleles; Animals; Base Sequence; Chromosomes; Crosses; Data Format; Databases; DNA; Female; Genetic; Genome; High-Throughput Nucleotide Sequencing; Hybridization; Library and Information Studies; Male; Mammalian; Mice; Molecular Sequence Data; Nucleic Acid; Pseudogenes; Sequence Alignment; Sequence Analysis
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URL: https://escholarship.org/uc/item/7zb7c0v9
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| 15 |
Increased prevalence of sex chromosome aneuploidies in specific language impairment and dyslexia.
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In: Symplectic Elements at Oxford ; Europe PubMed Central ; PubMed (http://www.ncbi.nlm.nih.gov/pubmed/) ; Web of Science (Lite) (http://apps.webofknowledge.com/summary.do) ; Scopus (http://www.scopus.com/home.url) ; CrossRef (2014)
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| 16 |
Genome-wide association analyses of child genotype effects and parent-of-origin effects in specific language impairment.
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In: Symplectic Elements at Oxford ; Europe PubMed Central ; PubMed (http://www.ncbi.nlm.nih.gov/pubmed/) ; Web of Science (Lite) (http://apps.webofknowledge.com/summary.do) ; Scopus (http://www.scopus.com/home.url) ; CrossRef (2014)
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| 17 |
Las leyes de la lingüística en los sistemas de comunicación
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In: TDX (Tesis Doctorals en Xarxa) (2014)
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| 18 |
Las leyes de la lingüística en los sistemas de comunicación
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| 19 |
The XY gene hypothesis of psychosis: origins and current status.
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In: Symplectic Elements at Oxford ; Europe PubMed Central ; PubMed (http://www.ncbi.nlm.nih.gov/pubmed/) ; Scopus (http://www.scopus.com/home.url) ; CrossRef (2013)
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| 20 |
TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities.
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In: Symplectic Elements at Oxford ; Europe PubMed Central ; PubMed (http://www.ncbi.nlm.nih.gov/pubmed/) ; Web of Science (Lite) (http://apps.webofknowledge.com/summary.do) ; Scopus (http://www.scopus.com/home.url) ; CrossRef (2013)
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