ArticleBMC genomics2014
Whole genome and exome sequencing of monozygotic twins discordant for Crohn's disease.
Article in BMC genomics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 1 of them a synthesis that pooled it.
What it found
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
22 citing papers in PubMed, 1 synthesis or guideline pooled it, 44 citations in OpenAlex.
- Biliary atresia in twins: a systematic review and meta-analysis.Pediatric surgery international · 2020Pooled it
- De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genes.European journal of human genetics : EJHG · 2019Trial
- Functional landscape of genome-wide postzygotic somatic mutations between monozygotic twins.DNA research : an international journal for rapid publication of reports on genes and genomes · 2024Article
- Genome interpretation in a federated learning context allows the multi-center exome-based risk prediction of Crohn's disease patients.Scientific reports · 2023Article
- Identification of Disease-associated Traits and Clonotypes in the T Cell Receptor Repertoire of Monozygotic Twins Affected by Inflammatory Bowel Diseases.Journal of Crohn's & colitis · 2020Article
- Biliary atresia in twins'population: a retrospective multicenter study in mainland China.Pediatric surgery international · 2020Article
- Two cases of atypical twinning: Phenotypically discordant monozygotic and conjoined twins.Clinical case reports · 2019Article
- Development of the variant calling algorithm, ADIScan, and its use to estimate discordant sequences between monozygotic twins.Nucleic acids research · 2018Article
- Micro-RNAs -106a and -362-3p in Peripheral Blood of Inflammatory Bowel Disease Patients.The open biochemistry journal · 2018Article
- Identification and characterization of two functional variants in the human longevity gene FOXO3.Nature communications · 2017Article
- Copy Number Variants and Exome Sequencing Analysis in Six Pairs of Chinese Monozygotic Twins Discordant for Congenital Heart Disease.Twin research and human genetics : the official journal of the International Society for Twin Studies · 2017Article
- Post-zygotic genomic changes in glutamate and dopamine pathway genes may explain discordance of monozygotic twins for schizophrenia.Clinical and translational medicine · 2017Article
- CAGI4 Crohn's exome challenge: Marker SNP versus exome variant models for assigning risk of Crohn disease.Human mutation · 2017Article
- MosaicHunter: accurate detection of postzygotic single-nucleotide mosaicism through next-generation sequencing of unpaired, trio, and paired samples.Nucleic acids research · 2017Article
- Paternal chronic colitis causes epigenetic inheritance of susceptibility to colitis.Scientific reports · 2016Article
- MicroRNAs: how many in inflammatory bowel disease?Current opinion in gastroenterology · 2016Review
- Danish cohort of monozygotic inflammatory bowel disease twins: Clinical characteristics and inflammatory activity.World journal of gastroenterology · 2016Article
- Systematic analysis of somatic mutations driving cancer: uncovering functional protein regions in disease development.Biology direct · 2016Article
- Failure to Identify Somatic Mutations in Monozygotic Twins Discordant for Schizophrenia by Whole Exome Sequencing.Chinese medical journal · 2016Article
- Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation.American journal of human genetics · 2015Article
Corrections and comments
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Authors and funding
9 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundCrohn's disease (CD) is an inflammatory bowel disease caused by genetic and environmental factors. More than 160 susceptibility loci have been identified for IBD, yet a large part of the genetic variance remains unexplained. Recent studies have demonstrated genetic differences between monozygotic twins, who were long thought to be genetically completely identical.
resultsWe aimed to test if somatic mutations play a role in CD etiology by sequencing the genomes and exomes of directly affected tissue from the bowel and blood samples of one and the blood-derived exomes of two further monozygotic discordant twin pairs. Our goal was the identification of mutations present only in the affected twins, pointing to novel candidates for CD susceptibility loci. We present a thorough genetic characterization of the sequenced individuals but detected no consistent differences within the twin pairs. An estimate of the CD susceptibility based on known CD loci however hinted at a higher mutational load in all three twin pairs compared to 1,920 healthy individuals.
conclusionSomatic mosaicism does not seem to play a role in the discordance of monozygotic CD twins. Our study constitutes the first to perform whole genome sequencing for CD twins and therefore provides a valuable reference dataset for future studies. We present an example framework for mosaicism detection and point to the challenges in these types of analyses.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.