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Genome - ClinicalTrials.gov

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Last Updated: 03 September 2022

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Whole Genome Medical Sequencing for Gene Discovery

We want to find causative molecular lesions for a series of rare, severe phenotypes that were believed to be due to either somatic mutations, germline novo heterozygous mutations, germline inherited recessive, or germline inherited dominant mutations in recently unknown or uncharacterized genes. Each trio will be enrolled in GSMS with the ability to obtain clinically relevant findings, namely those that introduce the disorder as well as other clinically relevant findings that were incidentally part of the GSMS process. Sequence data obtained by the NIH Intramural Sequence Center will be tested by staff in the Biesecker laboratory for sequence variants that match the hypothesized inheritance pattern.

Source link: https://clinicaltrials.gov/ct2/show/NCT01087320


Expression of the Genome in Lymphoid Malignancies

The morphological appearance of the cancer cells was supplemented by a few molecular markers in current diagnosis of lymphoid malignancies. Gene expression in lymphomas had distinct molecular subtypes of diffuse large B-cell lymphoma, according to diagnostic DNA microarray analysis of gene expression in lymphomas, and these new molecularly defined lymphoma subtypes had divergent clinical findings. Eligibility: Diagnosis of lymphoid malignancy at one of LLMPP affiliate centers, including specimens obtained at other clinics and submitted to LLMPP-enrolled sites or The National Cancer Center Singapore, are among the LLMPP-funded organizations. Patients who were diagnosed and/or treated at one of the LLMPP or at The National Cancer Center Singapore previously reported malignant cells that were analyzed. The patients in this trial will also be sent clinical results for the purpose of correlating gene expression measurements with clinical results.

Source link: https://clinicaltrials.gov/ct2/show/NCT00339963


Whole Exome and Whole Genome Sequencing for Genotyping of Inherited and Congenital Eye Conditions

Object: This research is designed to find genetic causes of inherited eye diseases by whole exome or whole genome sequencing. The goal is to enroll 1,685 patients, as well as those with an eye disease that has been investigated and unaffected family members. Parents of an affected participant should be ideally unaffected family members. Both affected and unaffected eligible participants will receive genetic analysis and/or saliva samples for exome or genome sequencing. If participants opt-out of secondary analysis and reporting, Sequence results will be examined for primary variants and secondary results. Outcome Measures: This is an etiologic research that will yield molecular evidence about previously-recognized conditions for which participants did not have a molecular diagnosis, as well as molecular data for previously unidentified conditions involving the eye.

Source link: https://clinicaltrials.gov/ct2/show/NCT02077894


MammaPrint, BluePrint, and Full-genome Data Linked With Clinical Data to Evaluate New Gene EXpression Profiles: An Adaptable Registry (FLEX)

Patients with stage I-III breast cancer with MammaPrint and BluePrint testing in any medical setting will be included in the FLEX Registry. The study arm appendices would specify the treatment arm, inclusion criteria, and the number of patients required.

Source link: https://clinicaltrials.gov/ct2/show/NCT03053193


The Comprehensive Analysis of Health Records, TCM Constitution, Biomarker, and Whole-genome Sequencing Among Dry Eye Syndrome, Healthy Control, Sjögren's Syndrome and Other Inflammation Disease in Taiwan

Methods: This research intends to use health information, physical examination results, urine biomarker, gene sequence, and metabolome from Taiwan Biobank Database to see the difference between dry eye syndrome, healthy control, and other inflammation diseases. We also want to investigate the differences between the genetic variant, gene copy number, whole-genome sequencing, DNA methylation, HLA typing, and metabolome to see the difference between the genetic variant, gene copy number, single nucleotide variation, chromosomal recombination, and very low-level gene expression differences among the genetic variant, gene copy number, single nucleotide variation, chromosomal recombination, and very low-genome metabolome chromatome genotyping In the DES, HC, and ID, we wanted to determine the difference between questionnaire, physical examination results, blood biomarker, urine biomarker, and biochemical biomarker. The DES, HC, and ID differ on gene copy number, single nucleotide variation, chromosomal recombination, and very low-level gene expression differences for the DES, HC, and ID can be used to determine the difference between gene copy number, single nucleotide variation, chromosomal recombination, and very low-level gene expression differences for the DES, HC, and ID. For the DES, HC, and ID, it is necessary to determine the difference between gene variation and TCM body constitution.

Source link: https://clinicaltrials.gov/ct2/show/NCT03938207


Clinical and Neurophysiological Characteristics of Narcolepsy in Russia Basing on Clinical, Polysomnographic and Genome-wide Association Analyses of Narcolepsy With Cataplexy: a European Narcolepsy Network Study of 2013

Mankovsky's first reports of narcolepsy with cataplexy in Russia were published in 1925. This study aims to publish clinical and polysomnographic /multiple sleep latency test findings in a Russian population and compare them with the European narcolepsy network, according to the European narcolepsy network. Because of the ambiguity regarding the diagnosis of narcolepsy without cataplexy, only patients with cataplexy were included in this report. In 2019, 27 centers from 27 Russian cities were connected in order to establish a network of sleep centers with expertise/interest in narcolepsy. On a scale from 1 to 5, measuring rare to extremely common cataplexy attacks per year; 1 = more than one cataplexy attack per year per year but less than one per week; 5 = more than one cataplexy attack per week but less than one per month; 4 = more than one cataplexy attack per year; 2 = more than one cataplexy attack per year but less than one per week; 5 = at least one cataplexy attack per day; 5 = one per year; 1 = one or per year; 1 = more than one or per year; 1 = one or per year; 1 = one per year; 1 = per year; 1 = more than one per year; 1 = more than one per year; 1 = more than one per year; 1 = more than one per year; 3 = less than one per month but less than one per week; 1 = more than 1 = more than one per week; 5 = more than one per year; 1 = less than one cataplexy attack per month; 5 = more than one attack per day; 5 = more than one or less than 1 = more than 1 = more Sleep latency was determined by PSG and MSLT as the time from lights off to the first epoch scored as sleep. A SOREMP was defined as the occurrence of an epoch of REM sleep within 15 min after the first epoch was recorded as sleep by the first epoch. Investigators compiled the percentage of naps with SOREMPs to standardize the findings.

Source link: https://clinicaltrials.gov/ct2/show/NCT05375890


Genomic Services Research Program

This study aims to determine whether or not returning SF generated by research or clinical sequencing by interviewing individuals who have obtained such results. Both short and long-term, our research/initiatives show that a lot is still unclear about how SF recipients comprehend these findings, communicate them to their health professionals and families, and whether they follow recommended health-preserving practices in both short and long-term. As well, recipients of SF are uninformed population in which to investigate penetrance of disorders linked to SF genes. Hence, this protocol intends to investigate fundamental issues of clinical relevance associated with SF return and the persistence of SF-related disorders. Interviews and interviews with SF recipients revealed that healthcare decisions and family communication are analyzed.

Source link: https://clinicaltrials.gov/ct2/show/NCT02595957


Genomic Translation for Amyotrophic Lateral Sclerosis Care

The progressive death of motor neurons in both patients is attributed to ALS/MND. In some patients, swallowing/speech are the first sign, but most suffer with problems in their hands or feet at the start. Finally, some patients have a lack of mostly motor neurons in the brain, while others suffer mostly lower motor neurons in the spinal cord and brain stem. ALS/MND research has discovered a few genetic causes that contribute to the variability of ALS/MND. Uncovering additional factors that contribute to ALS variability is an important research goal, and it could lead to new insight into how to properly diagnose and treat the disease. This report is entitled "Genomic Translation for ALS Care," is the English language used in this research. The investigators will investigate the genome and gene expression of people with ALS/MND and then publish research on the results, revealing results that may lead to improved care for ALS/MND patients.

Source link: https://clinicaltrials.gov/ct2/show/NCT02795897

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions