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92 results for “pedigrees”

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geo24/100

Characterization of expression quantitative trait loci in extensively phenotyped pedigrees from Colombia and Costa Rica

GEO Series GSE82042. Homo sapiens. 786 samples. Type: Expression profiling by array.

openGEO-OpenJul 2016View details →
dryad24/100

Data from: Estimating genotyping errors from genotype and reconstructed pedigree data

1. Genotyping errors are rules rather than exceptions in reality, and are found in virtually all but very small datasets. These errors, even when occurring at an extremely low rate, can derail many genetic analyses such as parentage/sibship assignments and linkage/association studies. 2. Nonetheless, few robust and accurate methods are available for estimating the rate of occurrence of genotyping errors and for identifying individual erroneous genotypes at a locus. Methods based on duplicate genotyping are expensive, and estimate genotype inconsistency rather than error rate at a locus. Methods based on Hardy-Weinberg equilibrium tests have low robustness and low power, and apply only to those particular errors that cause excessive homozygosity. Methods based on pedigrees are powerful, robust and accurate. However, they rely on known and complete pedigrees that are unfortunately rarely available from natural populations in the wild. 3. I proposed a maximum likelihood method to reconstruct pedigrees from genotype data with errors occurring at a roughly estimated (presumed) rate. In this paper, I describe how to use the method and inferred pedigree in estimating allelic dropout (or null allele) rate and false allele rate jointly at each marker locus, in identifying the erroneous genotypes, and in inferring the most likely genotypes at each locus of each individual. I examine the power, accuracy and robustness of the method by extensive simulations, and demonstrate the usefulness of the method by analysing three empirical datasets. 4. It is concluded that, both pedigrees and the rates of genotyping errors at each locus can be reliably estimated from the same genotype data by the same likelihood method, when marker information is sufficient and some sampled individuals are first-degree relatives. The erroneous genotypes are however inferred conservatively, and are reliably detected only when they occur in large families and/or at highly polymorphic loci. Estimation of genotyping error rates per locus and identification of erroneous genotypes of each individual at each locus should be routinely conducted to assess and improve data quality, to highlight markers for optimization of genotyping protocols or for replacement, and to enable the integration of genotyping errors in a robust statistical analysis.

opencc-zeroDec 2016View details →
ClinicalTrials.gov24/100

Characterization Of Coronary Prone Pedigrees

ClinicalTrials.gov study NCT00005139. IPD Sharing: Not stated. Countries: 0. Publications: 48.

restrictedIPD-UNDECIDEDFeb 2026View details →
dryad24/100

Data from: Measuring individual inbreeding in the age of genomics: marker-based measures are better than pedigrees

Open the record for dataset details and reuse information.

publicFeb 2015View details →
dryad24/100

Data from: Estimating genotyping errors from genotype and reconstructed pedigree data

Open the record for dataset details and reuse information.

publicJul 2018View details →
geo24/100

Whole genome sequence, SNP chips and pedigree structure

GEO Series GSE90441. Canis lupus familiaris; Canis lupus. 795 samples. Type: SNP genotyping by SNP array; Genome variation profiling by SNP array.

openGEO-OpenNov 2016View details →
geo20/100

Transcriptome analysis of a breeding program pedigree

GEO Series GSE24534. Hordeum vulgare. 90 samples. Type: Expression profiling by array.

openGEO-OpenOct 2010View details →
geo20/100

Gene expression levels in immortalized B cells from members of 45 CEPH-Utah pedigrees

GEO Series GSE16778. Homo sapiens. 695 samples. Type: Expression profiling by array.

openGEO-OpenSep 2010View details →
geo20/100

Transcriptome-based profiling reveals a macrophage pedigree and identifies Irf8 as pivotal for macrophage homeostasis and function

GEO Series GSE73125. Mus musculus. 81 samples. Type: Expression profiling by array.

openGEO-OpenJul 2016View details →
geo20/100

Pedigreed Primate Embryonic Stem Cells Express Homogeneous Familial Gene Profiles

GEO Series GSE7534. Macaca mulatta. 27 samples. Type: Expression profiling by array.

openGEO-OpenApr 2008View details →
geo16/100

Pedigree Study and Functional Analysis of Novel Germline p. R21Afs MEN1 Mutation in a Multiple Endocrine Neoplasia Type 1 Family

GEO Series GSE221993. Homo sapiens. 6 samples. Type: Expression profiling by high throughput sequencing.

openGEO-OpenFeb 2023View details →
zenodo8/100

Preliminary assemblies of the three-generational pedigree of African-American ancestry

<p>Monika Cechova<sup>1</sup>, Sergey Koren<sup>2</sup>, Julian K. Lucas<sup>1</sup>, Rebecca Serra Mari<sup>3</sup>, Mobin Asri<sup>1</sup>, David Porubsky<sup>4</sup>, Jordan M. Eizenga<sup>1</sup>, Brandy McNulty<sup>1</sup>, Andrey Bzikadze<sup>5</sup>, Christopher Markovic<sup>6</sup>, Tamara Potapova<sup>7</sup>, Jennifer L. Gerton<sup>7</sup>, Pavel A. Pevzner<sup>8</sup>, Evan E. Eichler<sup>4</sup>, Benedict Paten<sup>1</sup>, Adam M. Phillippy<sup>2</sup>, Ting Wang<sup>9</sup>, Nathan O. Stitziel<sup>10</sup> , Robert S. Fulton<sup>6</sup>, Tobias Marschall<sup>3</sup>, Karen H. Miga<sup>1</sup></p> <p>&nbsp;</p> <p><sup>1</sup> UC Santa Cruz Genomics Institute, University of California, Santa Cruz, 1156 High St, Santa Cruz, CA, USA</p> <p><sup>2</sup> Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA</p> <p><sup>3</sup> Institute for Medical Biometry and Bioinformatics, Medical Faculty, Heinrich Heine University D&uuml;sseldorf, D&uuml;sseldorf, Germany</p> <p><sup>4</sup> Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA</p> <p><sup>5</sup> Graduate Program in Bioinformatics and Systems Biology, University of California San Diego, San Diego, CA, USA</p> <p><sup>6</sup> McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO 63108, USA</p> <p><sup>7</sup> Stowers Institute for Medical Research, Kansas City, MO, USA</p> <p><sup>8</sup> Department of Computer Science and Engineering, University of California San Diego, San Diego, CA, USA</p> <p><sup>9 </sup>Department of Genetics, Washington University School of Medicine, St. Louis, MO 63110, USA</p> <p><sup>10</sup> Department of Medicine, Washington University School of Medicine, St. Louis, MO 63110, USA</p>

restrictedApr 2023View details →

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