ArticleGenome medicine2015
Cpipe: a shared variant detection pipeline designed for diagnostic settings.
Article in Genome medicine, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 59 papers.
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Who cites it
59 citing papers in PubMed.
- Molecular analysis of individuals with suspected 46,XY differences of sex development in a homogenous and understudied population.Human molecular genetics · 2026Article
- Childhood motor speech disorders: who to prioritise for genetic testing.European journal of human genetics : EJHG · 2026Article
- RNA exosome component EXOSC10 variants identified in a patient with premature ovarian insufficiency†.Biology of reproduction · 2026Article
- DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders.American journal of human genetics · 2025Article
- Functional characterization of human recessive DIS3 variants in premature ovarian insufficiency†.Biology of reproduction · 2025Article
- A Human HomozygousGenes · 2024Article
- Reduced Protein Import via TIM23 SORT Drives Disease Pathology in TIMM50-Associated Mitochondrial Disease.Molecular and cellular biology · 2024Article
- Diagnostic utility of exome sequencing followed by research reanalysis in human brain malformations.Brain communications · 2024Article
- Interstitial lung disease and pancreatic exocrine insufficiency in CADDS: Phenotypic expansion and literature review.JIMD reports · 2023Article
- Deficiency of the mitochondrial ribosomal subunit, MRPL50, causes autosomal recessive syndromic premature ovarian insufficiency.Human genetics · 2023Article
- FGF9 variant in 46,XY DSD patient suggests a role for dimerization in sex determination.Clinical genetics · 2023Article
- Severe NAD(P)HX Dehydratase (NAXD) Neurometabolic Syndrome May Present in Adulthood after Mild Head Trauma.International journal of molecular sciences · 2023Article
- Premature Ovarian Insufficiency in CLPB Deficiency: Transcriptomic, Proteomic and Phenotypic Insights.The Journal of clinical endocrinology and metabolism · 2022Article
- Article
- The Australian Reproductive Genetic Carrier Screening Project (Mackenzie's Mission): Design and Implementation.Journal of personalized medicine · 2022Article
- Dominant TP63 missense variants lead to constitutive activation and premature ovarian insufficiency.Human mutation · 2022Article
- Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders.Brain : a journal of neurology · 2022Article
- Distinct diagnostic trajectories in NBAS-associated acute liver failure highlights the need for timely functional studies.JIMD reports · 2022Article
- A de novo ACTB gene pathogenic variant in identical twins with phenotypic variation for hydrops and jejunal atresia.American journal of medical genetics. Part A · 2022Article
- Ethylmalonic encephalopathy masquerading as meningococcemia.Cold Spring Harbor molecular case studies · 2022Article
Corrections and comments
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Authors and funding
17 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The benefits of implementing high throughput sequencing in the clinic are quickly becoming apparent. However, few freely available bioinformatics pipelines have been built from the ground up with clinical genomics in mind. Here we present Cpipe, a pipeline designed specifically for clinical genetic disease diagnostics. Cpipe was developed by the Melbourne Genomics Health Alliance, an Australian initiative to promote common approaches to genomics across healthcare institutions. As such, Cpipe has been designed to provide fast, effective and reproducible analysis, while also being highly flexible and customisable to meet the individual needs of diverse clinical settings. Cpipe is being shared with the clinical sequencing community as an open source project and is available at http://cpipeline.org.
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Registered trials
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.