(Q31120125)

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Visualization of uniparental inheritance, Mendelian inconsistencies, deletions, and parent of origin effects in single nucleotide polymorphism trio data with SNPtrio

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scholarly article

1 reference

Europe PubMed Central

29 June 2017

Visualization of uniparental inheritance, Mendelian inconsistencies, deletions, and parent of origin effects in single nucleotide polymorphism trio data with SNPtrio (English)

1 reference

Europe PubMed Central

29 June 2017

single-nucleotide polymorphism

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based on heuristic

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Elisha Roberson

2

object named as

Elisha D O Roberson

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Europe PubMed Central

29 June 2017

author name string

Jason C Ting

1

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Europe PubMed Central

29 June 2017

Nathaniel D Miller

3

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Europe PubMed Central

29 June 2017

Alana Lysholm-Bernacchi

4

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Europe PubMed Central

29 June 2017

Dietrich A Stephan

5

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Europe PubMed Central

29 June 2017

George T Capone

6

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Europe PubMed Central

29 June 2017

Ingo Ruczinski

7

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Europe PubMed Central

29 June 2017

George H Thomas

8

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Europe PubMed Central

29 June 2017

Jonathan Pevsner

9

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Europe PubMed Central

29 June 2017

publication date

1 December 2007

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Europe PubMed Central

29 June 2017

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Europe PubMed Central

29 June 2017

28

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Europe PubMed Central

29 June 2017

1225-1235

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Europe PubMed Central

29 June 2017

12

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Europe PubMed Central

29 June 2017

Complete maternal uniparental isodisomy of chromosome 4 in a subject with major depressive disorder detected by high density SNP genotyping arrays

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Uniparental isodisomy for paternal 2p and maternal 2q in a phenotypically normal female with two isochromosomes, i(2p) and i(2q).

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A rapid microarray based whole genome analysis for detection of uniparental disomy

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Frequent occurrence of uniparental disomy in colorectal cancer

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Haploview: analysis and visualization of LD and haplotype maps

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7 January 2021

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Global analysis of uniparental disomy using high density genotyping arrays

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7 January 2021

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Molecular cytogenetic characterization of a subtle interstitial del(3)(p25.3p26.2) in a patient with deletion 3p syndrome

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Interactive visual analysis of SNP data for rapid autozygosity mapping in consanguineous families

1 reference

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Exploration, normalization, and genotype calls of high-density oligonucleotide SNP array data

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A high-resolution survey of deletion polymorphism in the human genome

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A haplotype map of the human genome

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Widening the spectrum of human genetic variation

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A fascination with chromosome rescue in uniparental disomy: Mendelian recessive outlaws and imprinting copyrights infringements

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SequenceLDhot: detecting recombination hotspots.

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Structural variation in the human genome

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Trisomy 7 mosaicism, maternal uniparental heterodisomy 7 and Hirschsprung's disease in a child with Silver-Russell syndrome

1 reference

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Copy number variation: new insights in genome diversity

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Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation

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Extended tracts of homozygosity in outbred human populations

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7 January 2021

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Common deletions and SNPs are in linkage disequilibrium in the human genome

1 reference

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Detection of large-scale variation in the human genome

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7 January 2021

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A comparison of phasing algorithms for trios and unrelated individuals

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7 January 2021

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Common deletion polymorphisms in the human genome.

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7 January 2021

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High-throughput genotyping of intermediate-size structural variation

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PedCheck: a program for identification of genotype incompatibilities in linkage analysis

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High-resolution analysis of 9p loss in human cancer cells using single nucleotide polymorphism-based mapping arrays

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7 January 2021

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Global variation in copy number in the human genome

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7 January 2021

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Mechanisms leading to uniparental disomy and their clinical consequences

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SNPchip: R classes and methods for SNP array data

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Large-scale copy number polymorphism in the human genome

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7 January 2021

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SNP-VISTA: an interactive SNP visualization tool

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7 January 2021

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Structural variation of the human genome

1 reference

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7 January 2021

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Uniparental disomy

1 reference

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Genome-wide SNP assay reveals structural genomic variation, extended homozygosity and cell-line induced alterations in normal individuals

1 reference

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High-resolution identification of chromosomal abnormalities using oligonucleotide arrays containing 116,204 SNPs

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Tag SNP selection for association studies

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SNP Chart: an integrated platform for visualization and interpretation of microarray genotyping data

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Analysis and visualization of chromosomal abnormalities in SNP data with SNPscan

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Fine-scale structural variation of the human genome

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Integration of global SNP-based mapping and expression arrays reveals key regions, mechanisms, and genes important in the pathogenesis of multiple myeloma

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SNP Function Portal: a web database for exploring the function implication of SNP alleles

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A comprehensive analysis of common copy-number variations in the human genome

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ArrayFusion: a web application for multi-dimensional analysis of CGH, SNP and microarray data

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Parents of children with autosomal recessive diseases are not always carriers of the respective mutant alleles

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10.1002/HUMU.20583

1 reference

Europe PubMed Central

29 June 2017

1 reference

Europe PubMed Central

29 June 2017

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