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dbGaP phs000272 Genome-Wide Association Study of Behçet's Disease (Turkish) - Eligibility

- 7/4/22 - 4 forms, 1 itemgroup, 3 items, 1 language
Itemgroup: IG.elig
Principal Investigator: Elaine F. Remmers, PhD, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, USA MeSH: Behcet Syndrome https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000272 *Introduction* Behçet's disease (BD) is a genetically complex multisystem disease of unknown etiology, characterized by recurrent inflammatory attacks affecting orogenital mucosa, eyes, skin, joints, blood vessels, and less frequently, the central nervous system and gastrointestinal tract. Family studies suggest a genetically complex contribution to BD. With the exception of HLA-B51, which explains less than 20% of the genetic risk, the identities of alleles that are responsible for the complex inheritance of this disease have remained unclear. *Aim* To identify genes that contribute to BD susceptibility. *Methods* A genome-wide association study was undertaken with 311,459 informative and high quality SNPs in a collection of 1215 BD patients and 1278 healthy controls from Turkey using a beadchip microarray assay (Infinium SNP genotype assay, Illumina). HLA-B types were determined with a reverse sequence-specific oligonucleotide method (One Lambda). Regions with evidence for association were fine-mapped using Sequenom iPLEX gold assays. Disease-associated SNPs were genotyped in additional ethnically matched case/control collections from diverse genetic backgrounds, including a total of 2430 cases and 2660 controls, using TaqMan SNP genotype assays. Association data were combined in a meta-analysis of all the collections. *Results* We confirmed the known association with HLA-B51 and found evidence for a second, independent susceptibility locus in the Class I region of the MHC. In addition, we identified one SNP with genome-wide evidence for disease association (P 5.0 x 10sup-8/sup) within the gene encoding the immunoregulatory cytokine, interleukin-10 (IL10). A meta-analysis of the data from all the collections established associations with the IL10 variant (rs1518111, P = 3.54 x 10sup-18/sup, odds ratio 1.45 with 95% confidence interval 1.34 to 1.58) and with a variant located between the interleukin-23 receptor (IL23R) and interleukin 12 receptor β2 (IL12RB2) genes (rs924080, P = 6.69 x 10sup-9/sup, odds ratio 1.28 with 95% confidence interval 1.18 to 1.39). The disease-associated IL10 variant was associated with diminished mRNA expression and low protein production by cells obtained from healthy blood donors. *Conclusions* These data suggest that genetically encoded low production of IL-10 increases risk of BD and suggest novel interventional targets in the IL-10 and IL-23 pathways. Note: The submitted data are the genotypes of the 311,459 SNPs in 1215 cases and 1278 controls.

pht001444.v1.p1

1 itemgroup 3 items

pht001445.v1.p1

1 itemgroup 2 items

pht001912.v1.p1

1 itemgroup 2 items

dbGaP phs000409 Sequencing of Medulloblastoma - Eligibility

- 7/1/22 - 6 forms, 1 itemgroup, 1 item, 1 language
Itemgroup: IG.elig
Principal Investigator: Richard Gilbertson, St. Jude Children's Research Hospital, Memphis, TN, USA MeSH: Medulloblastoma https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000409 Medulloblastoma is a heterogenous disease made up of at least four distinct subtypes of disease which appear to exploit and disrupt naturally occurring developmental pathways of cellular growth and hindbrain development. To better understand the driver mutations of this disease, we performed whole genome sequencing of 37 medulloblastomas and the corresponding normal DNA of the 37 affected children treated at St. Jude Children's Research Hospital. We have found several novel mutations which appear subtype specific. These mutations were checked for frequency in a separate tumor cohort of 56 children with medulloblastoma, also treated on the St. Jude Medulloblastoma 2003 trial, and were tested in several animal models of medulloblastoma for proof of oncogenic potential.

pht002735.v1.p1

1 itemgroup 5 items

pht002736.v1.p1

1 itemgroup 5 items

pht002737.v1.p1

1 itemgroup 15 items

dbGaP phs000410 Whole Exome Sequencing for Colorectal Cancer - pht002448.v1.p1

- 7/1/22 - 5 forms, 1 itemgroup, 5 items, 1 language
Itemgroup: pht002448
Principal Investigator: Ulrike Peters, PhD, Fred Hutchinson Cancer Research Center, Seattle, WA, USA MeSH: Colorectal Neoplasms,Sequence Analysis, DNA https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000410 This project was designed to use next generation sequencing technology to screen the protein coding regions of the genome for low frequency variants in a panel of high-risk colorectal adenocarcinoma cases. Blood and cell-line DNA for colorectal cancer patients and a subset of quality control samples that had existing whole exome sequence data were analyzed using Illumina HiSeq sequencers. Samples from this project were from participants in the Women's Health Initiative (WHI) and the Diet, Activity, and Lifestyle Study (DALS).

pht002449.v1.p1

1 itemgroup 5 items

pht002450.v1.p1

1 itemgroup 6 items

pht002451.v1.p1

1 itemgroup 5 items

dbGaP phs000445 HIV-Resistant People with Hemophilia - pht002504.v1.p1

- 6/29/22 - 5 forms, 1 itemgroup, 3 items, 1 language
Itemgroup: pht002504
Principal Investigator: James J. Goedert, M.D., National Institutes of Health, Bethesda, MD, USA MeSH: HIV,Hemophilia A https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000445 Rare individuals are highly resistant to infection with human immunodeficiency virus (HIV). Studies of candidate genes resulted in the discovery of a 32bp deletion in the CC-chemokine receptor 5 gene (CCR5Δ32), which rendered this critical co-receptor for primary HIV infection to be non-functional. Pharmacologic and vaccine-induced blockade of CCR5 is being pursued to treat and prevent HIV infection and other conditions. The allele frequency of CCR5Δ32 among persons of European ancestry is approximately 10%. CCR5Δ32/Δ32 homozygotes are almost totally resistant to HIV infection. People with severe hemophilia A require frequent replacement with clotting Factor VIII (FVIII) to control hemorrhage. Prior to the discovery of HIV in 1984 and licensure of recombinant FVIII in the late 1980s, people with severe hemophilia A were treated with plasma-derived FVIII and thus were intensively exposed to HIV. Only 5% of such patients were not infected with HIV. Of these, approximately 1/3 were CCR5Δ32/Δ32 homozygotes. The remaining 2/3 of these people who were highly resistant to HIV remain unexplained. This project seeks to discover genome variations among people who are highly resistant to HIV infection. Such variation is likely to serve as a target for reducing the morbidity and incidence of HIV.

Eligibility

1 itemgroup 1 item

pht002505.v1.p1

1 itemgroup 3 items

pht002506.v1.p1

1 itemgroup 3 items

Virus finder - F.1

- 6/24/22 - 1 form, 5 itemgroups, 57 items, 3 languages
Itemgroups: Screening Tool,Symptoms,Optional Questions,Data use for future research,Informed Consent
Mischung Beispielfragebogen von Virusfinder und Screening-Tool-Vorschläge von COMPASS vom 22 Okt. 2020, vs3.1 https://www.virus-finder.de Research study of Heidelberg University Hospital and Heidelberg University New Corona testing strategies for the general public Die Studie wurde von einem Team der Universität Heidelberg im Rahmen des bundesweiten Forschungsnetzes zur angewandten Surveillance und Testung durchgeführt, das wiederum zum Nationalen Forschungsnetzwerk der Universitätsmedizin zu Covid-19 gehört. Sie wurden von den örtlichen Gesundheitsämtern unterstützt und vom Bundesministerium für Bildung und Forschung finanziert. "Das neuartige Coronavirus, wissenschaftlich SARS-CoV-2 genannt, stellt uns alle vor große Herausforderungen und wir mussten uns alle in den letzten Monaten wegen der Pandemie stark einschränken. Aktuell wird auf steigende Fallzahlen in der Regel mit einer Verschärfung der Maßnahmen reagiert. Das liegt vor allem daran, dass auch viele Personen ohne Symptome das Virus unerkannt weitertragen und damit nicht rechtzeitig lokal begrenzt reagiert werden kann. Dafür bräuchte es eine Strategie, die frühzeitig auch infizierte Personen ohne Symptome erkennen kann. Mit der Corona-Forschungsstudie erproben wir neue Verfahren hierzu. Im Zeitraum vom 18. November bis 08. Dezember [2020] werden ca. 28.000 Einwohner im Rhein-Neckar-Raum von uns ein Einladungsschreiben zur Teilnahme der Studie erhalten. Die Einladungen werden dabei gleichmäßig verteilt über die Tage verschickt. Sollten Sie in diesem Zeitraum kein Einladungsschreiben erhalten, können Sie leider nicht an der Studie teilnehmen und wir bitten Sie, von Anfragen rund um eine mögliche Teilnahme an der Studie abzusehen. Die Probandinnen und Probanden, d. h. die Menschen, die an der Corona-Forschungsstudie teilnehmen können, wurden dafür zufällig aus den Einwohnermeldeämtern der Gemeinden im Rhein-Neckar-Raum ausgewählt. Solche sogenannten Einwohnermeldestichproben sind nach §46 des Bundesmeldegesetzes zulässig, falls die Studie im öffentlichen Interesse stattfindet." Vielen Dank an Dr. Andreas Deckert für die Erlaubnis zum Upload.

dbGaP phs000292 GENEVA Genetics of Early Onset Stroke (GEOS) Study - Eligibility

- 6/23/22 - 5 forms, 1 itemgroup, 2 items, 1 language
Itemgroup: IG.elig
Principal Investigator: Braxton D. Mitchell, PhD, University of Maryland, Baltimore, MD, USA MeSH: Stroke https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000292 The Genetics of Early Onset Stroke (GEOS) Study is a population-based case-control study designed to identify genes associated with early-onset ischemic stroke and to characterize interactions of identified stroke genes and/or SNPs with environmental risk factors such as smoking and oral contraceptive use. The GEOS study consists of 921 ischemic stroke cases with age of first stroke 16-50 years and a similar number of controls, identified from the Baltimore-Washington area. Cases and controls were recruited in 3 different time periods: Stroke Prevention in Young Women-1 (SPYW-1) conducted from 1992-1996, Stroke Prevention in Young Women-2 (SPYW-2) conducted from 2001-2003, and Stroke Prevention in Young Men (SPYM) conducted from 2003-2007. The overall GEOS sample includes 477 cases who self-reported their race as "white" and 396 cases who self-reported their race as "African American." Traditional stroke risk factors and other study variables, including age, ethnicity, and history of hypertension, diabetes, myocardial infarction (MI), current smoking status, and current oral contraceptive use (both defined as use within one month prior to event for cases and at a comparable reference time for controls), were also collected during standardized interview and were included as covariates in our analyses. This study is part of the Gene Environment Association Studies initiative (GENEVA, http://www.genevastudy.org) funded by the trans-NIH Genes, Environment, and Health Initiative (GEI). The overarching goal is to identify novel genetic factors that contribute to early-onset ischemic stroke through large-scale genome-wide association studies of cases and controls of European and African descent from the Baltimore-Washington area. Genotyping was performed at the Johns Hopkins University Center for Inherited Disease Research (CIDR). Data cleaning and harmonization were done at the GEI-funded GENEVA Coordinating Center at the University of Washington.

pht001524.v1.p1

1 itemgroup 4 items

pht001525.v1.p1

1 itemgroup 6 items

pht001526.v1.p1

1 itemgroup 4 items

dbGaP phs000297 eMERGE Network Study of Resistant Hypertension - Eligibility

- 6/23/22 - 5 forms, 1 itemgroup, 9 items, 1 language
Itemgroup: IG.elig
Principal Investigator: Dan Roden, MD, Vanderbilt University Medical Center, Nashville, TN, USA MeSH: Hypertension https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000297 The **e**lectronic **M**edical **R**ecords and **Ge**nomics (eMERGE) Network is a consortium of five participating sites (Group Health Seattle, Marshfield Clinic, Mayo Clinic, Northwestern University, and Vanderbilt University) funded by the NHGRI to investigate the use of electronic medical record systems for genomic research. The goal of eMERGE is to conduct genome-wide association studies in approximately 19,000 individuals using EMR-derived phenotypes and DNA from linked Biorepositories. Using electronic phenotyping methods, the consortium used DNA samples from all participating sites to explore the genetic determinants of resistant hypertension. Treatment resistant hypertension is a common health problem in the clinical setting. A basic definition of resistant hypertension included subjects with uncontrolled blood pressure despite use of three antihypertensive medications or subjects requiring four or more medications to maintain control. Other conditions, such as secondary causes of hypertension, were exclusions. Site and participants include: *Vanderbilt University*: BioVU, Vanderbilt's DNA databank, is an enabling resource for exploration of the relationships among genetic variation, disease susceptibility, and variable drug responses, and represents a key first step in moving the emerging sciences of genomics and pharmacogenomics from research tools to clinical practice. BioVU acquires DNA from discarded blood samples collected from routine patient care. The biobank is linked to de-identified clinical data extracted from Vanderbilt's EMR, which forms the basis for phenotype definitions used in genotype-phenotype correlations. *Marshfield Clinic*: The Marshfield Clinic Personalized Medicine Research Project is a population-based biobank in central Wisconsin with more than 20,000 adult subjects who provided written, informed consent to access their medical records and provided a blood sample from which DNA was extracted and plasma and serum stored. In addition to an average of 30 years of medical history data, a questionnaire about environmental exposures, including a detailed food frequency questionnaire, is available to facilitate gene/environment studies. *Northwestern University*: The NUgene Project is a repository with longitudinal medical information from participating patients at affiliated hospitals and outpatient clinics from the Northwestern University Medical Center. Participants' DNA samples are coupled with data from a self-reported questionnaire and continuously updated data from our Electronic Medical Record (EMR) representing actual clinical care events. Northwestern has a state-of-the art, comprehensive inpatient and outpatient EMR system of over 2 million patients. NUgene has broad access to participant data for all outpatient visits as well as inpatient data via a consolidated data warehouse. NUgene participants consent to distribution and use of their coded DNA samples and data for a broad range of genetic research by third-party investigators. *Group Health(GH)/University of Washington (UW)*: Aging and Dementia eMERGE study biorepository leverages rich population-based longitudinal data from both electronic medical records and in-depth research data to explore genome wide associations. Participants include Seattle-area members of GH (a large integrated health care system in Washington State) consented and enrolled in 1) the UW Alzheimer's Disease Patient Registry (ADPR) and 2) the Adult Changes in Thought (ACT) study. The ADPR (PI: Eric B. Larson; NIH/NIA U01 AG 006781) is a population-based registry of incident dementia cases designed to identify all new Alzheimer's Disease cases within GH from 1987 to 1996. Medical history, physical, laboratory testing, and neuropsychological testing were performed on all consenting potential cases for determination of dementia status by a consensus conference. The study base of the ADPR population was stable with an attrition rate of less than 1%/year. The ACT study (PI: Eric B. Larson; NIH/NIA U01 AG 006781) is an ongoing community-based cohort study of aging and dementia. The original cohort of 2,581 randomly selected dementia-free members age 65 and older was enrolled in 1994-1996 and expanded by 811 in 2000-2002. Continuous enrollment to maintain a cohort of 2,000 dementia free persons began in 2005. Participants receive biennial assessment including cognitive status determination. The ACT sub-sample is stable; for the original cohort, median enrollment in GH was 19 years prior to joining the ACT study, and 85% of the cohort has ≥ 10 years of GH enrollment. DNA for the ADPR participants were obtained through a companion study, Genetic Differences in Cases and Controls (PI: Walter Kukull; NIH/NIA R01 AG007584). DNA obtained through both studies were extracted from blood using Gentra Systems Puregene methods. DNA concentration is determined by UV optical density. All samples are checked for quality by 260/280 ratio. For long-term storage, samples are aliquoted and stored at -70°C. *Mayo Clinic*: The Mayo biobank is a disease-specific biobank for vascular diseases including peripheral arterial disease (PAD). PAD patients were identified from individuals referred to the non-invasive vascular laboratory for lower extremity arterial evaluation. Since 1997, laboratory findings have been recorded into an electronic database employing an in-house software package for data archiving and retrieval; this data becomes part of the Mayo EMR. Patients referred to the center with suspected PAD undergo a comprehensive non-invasive evaluation including the ankle-brachial index (ABI) - the ratio of blood pressure measured in the upper arms divided by blood pressure measured at the ankles. Controls subjects are identified from patients referred to the Cardiovascular Health Clinic for stress ECG. The prevalence of PAD in patients with normal exercise capacity who do not have inducible ischemia on the stress ECG, was 1%. Data regarding risk factors for atherosclerosis such as diabetes, dyslipidemia, hypertension, and smoking are ascertained from the EMR.

pht002391.v1.p1

1 itemgroup 5 items

pht002392.v1.p1

1 itemgroup 5 items

pht002393.v1.p1

1 itemgroup 13 items

dbGaP phs000295 Next Generation Mendelian Genetics: Kabuki Syndrome - Eligibility

- 6/23/22 - 5 forms, 1 itemgroup, 2 items, 1 language
Itemgroup: IG.elig
Principal Investigator: Deborah Nickerson, PhD, Department of Genome Sciences, University of Washington, Seattle, WA, USA MeSH: Kabuki syndrome https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000295 The ultimate purpose of this research is to identify genes causing hereditary disorders. We are scaling a new approach to identify the candidate genes and gene mutations that underlie rare human Mendelian (a set of primary tenets relating to the transmission of hereditary characteristics from parent to child) diseases by using exome (protein coding segments of DNA) resequencing. The exome sequences of ten unrelated individuals with a diagnosis of Kabuki Syndrome (OMIM: 147920) were obtained by massively parallel DNA sequencing.

pht001530.v1.p1

1 itemgroup 5 items

pht001531.v2.p1

1 itemgroup 5 items

pht001532.v1.p1

1 itemgroup 15 items

dbGaP phs000294 STAMPEED: Myocardial Infarction Genetics Consortium (MIGen) - Eligibility

- 6/23/22 - 5 forms, 1 itemgroup, 1 item, 1 language
Itemgroup: IG.elig
Principal Investigator: David Altshuler, MD, PhD, Department of Molecular Biology and Center for Human Genetic Research, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA MeSH: Myocardial Infarction https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000294 Myocardial infarction (MI) is a common complex disease and the leading cause of death and disability worldwide. The genetic basis of this disease is largely unknown. It has been thought that early-onset MI events would have a substantially greater heritability, thus making DNA collections with younger individuals desirable. More recently, genome-wide association studies have become feasible through the development of whole genome arrays and a large catalogue of common variants reported in the International HapMap database. This study aims to use Affymetrix genotyping platform to do a whole genome scan in 3000 early-onset MI cases and 3000 matched controls from 6 study collection sites.

pht001533.v1.p1

1 itemgroup 6 items

pht001535.v1.p1

1 itemgroup 5 items

pht001536.v1.p1

1 itemgroup 13 items

dbGaP phs000293 The Familial Intracranial Aneurysm Linkage Study (FIA) - Eligibility

- 6/22/22 - 6 forms, 1 itemgroup, 7 items, 1 language
Itemgroup: IG.elig
Principal Investigator: Joseph P. Broderick, MD, Department of Neurology, University of Cincinnati, Cincinnati, OH, USA MeSH: Intracranial Aneurysm,Aortic Aneurysm, Abdominal https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000293 Our long-term objective is to identify susceptibility genes that are related to the formation of intracranial aneurysms (IA). Rupture of IAs occurs in 16,000 to 17,000 persons in the U.S. annually and nearly half of affected persons are dead within the first 30 days. An additional 6,000 to 7,000 persons with unruptured IAs are identified each year. Accumulated evidence indicates that a genetic component plays an important role in the development of IAs, but specific loci affecting the risk of IA have not been identified. The primary hypothesis of this study is that there are specific human chromosomal regions that are associated with an increased risk of IAs. Specific Aims of are:- Recruitment of 400 (475) families with multiple individuals who have an IA through 23 (25) referral centers throughout North America, Australia, and New Zealand that represent 35 (40) recruitment sites. - Ascertainment of interviews and blood samples from all affected family members as well as their first-degree relatives. White blood cells from living persons with an IA will be cryopreserved at Coriell Institute for Medical Research for future immortalization of cells lines as indicated. - Identification of unruptured IAs by obtaining MRAs in selected asymptomatic siblings (of affected individuals). - Completion of a 10 cM genome series in persons with IAs as well as the spouses and children of persons with an IA who are deceased. We will perform finer mapping of chromosomal regions with suggestive evidence of linkage in the genome screen. - Performance of a nonparametric (allele sharing) linkage analysis, including relevant environmental factors such as smoking, to identify chromosomal regions linked to IA. Reconstruction of the genotypes of deceased affected family members will be performed. Identification of individuals who are genetically at high risk for the development of IAs would enable targeted and effective screening/prevention/treatment strategies to reduce the substantial mortality and morbidity associated with this devastating type of stroke. Only a multidisciplinary, collaborative effort to identify, accrue, and genotype FIA families will be successful in identifying sufficient high-risk families to characterize the genetic underpinnings of IA.

pht003365.v1.p1

1 itemgroup 3 items

pht003363.v1.p1

1 itemgroup 2 items

pht003364.v1.p1

1 itemgroup 6 items

Empfehlung der Deutschen Gesellschaft für Anästhesiologie und Intensivmedizin e.V. (DGAI) und des Berufsverbandes Deutscher Anästhesisten e.V. (BDA) - Kerndatensatz Anästhesie Version 3.0; 2010 mit Aktualisierung auf Version 3.01; 2011 - DGAI KDS 3.01

- 6/20/22 - 1 form, 13 itemgroups, 95 items, 2 languages
Itemgroups: Header Informationen,Allgemeine Daten,Risikobewertung,Zeiterfassung,Anästhesieverfahren,Luftweg,Atmung Beatmung,Erweitertes Monitoring,Operationsart,AVB,Entlassung,Besondere Qualitätsmerkmale,technische Felder
Zehn Jahre nach der Verabschiedung des Kerndatensatzes Anästhesie (KDSA) Version 2.0 wurde von den Präsidien von DGAI und BDA eine Arbeitsgruppe beauftragt, den KDSA – basierend auf den Erfahrungen der Auswertungen – zu überarbeiten und auf einen fachlich aktuellen Stand zu bringen. Jeder Parameter wurde hin- sichtlich der Aussagekraft für die externe Quali- tätssicherung ggf. an über 1 Mio. Anästhesie- datensätzen überprüft, bevor er dann entweder beibehalten, ganz weggelassen oder neu bewertet wurde. Der KDSA V3.0 hat 66 Felder. Bei der Bewer - tung der Organsysteme wird nur noch zwischen vorhandenen und nicht vorhandenen relevanten pathologischen Befunden unterschieden. Es sind nur noch drei anästhesierelevante Verlaufsbe- obachtungen (AVB) und nur noch die relevanten Schweregrade zu erfassen. Durch die stärkere Strukturierung wurden weitergehende Plausibi- litäts kontrollen möglich. Der KDSA 3.0 wurde von den Präsidien von DGAI und BDA verabschiedet und ist ab dem 01.01.2011 gültig. Anästh Intensivmed 2010;51:S33-S55 Aktiv Druck & Verlag GmbH „Kerndatensatz 3“ von BDA und DGAI (Leiter: Prof. Dr. W. Heinrichs) Urheber: W. Heinrichs, W. Blumrich, S. Deil, M. Freitag, N. Kutz, I. Lüdtke, R. Röhrig und R. Streuf

dbGaP phs000269 Genotyping NIGMS Chromosomal Aberration and Inherited Disorder Samples - pht001496.v1.p1

- 6/20/22 - 3 forms, 1 itemgroup, 2 items, 1 language
Itemgroup: pht001496
Principal Investigator: Judith H. Greenberg, PhD, National Institute of General Medical Sciences, National Institutes of Health, Bethesda, MD, USA MeSH: Chromosome Disorders https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000269 As part of an effort to correlate molecular copy number variation determinations with state of the art karyotype analyses, 716 samples derived from 697 individuals from the Chromosomal Aberrations and Inherited Disorders collections of the NIGMS Human Genetic Cell Repository were genotyped and analyzed for CNV determination by the Microarray Center at the Coriell Institute for Medical Research. Karyotyping is performed on all cell cultures in the Repository with reported chromosome abnormalities. The samples chosen for genotyping in this study are intended to represent a diverse set of copy number variants, but the selection was also weighted to over-sample commonly manifested types of aberrations. When available, the ISCN description of the sample based on G-banding and FISH analysis is included in the phenotypic data. Karyotypes for these cells can be viewed in the online Repository catalog (http://ccr.coriell.org/Sections/Collections/NIGMS/?SsId=8).

pht001497.v1.p1

1 itemgroup 4 items

pht001498.v1.p1

1 itemgroup 7 items

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