Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

BIOFILTER AS A FUNCTIONAL ANNOTATION PIPELINE FOR COMMON AND RARE COPY NUMBER BURDEN.

Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing - 1 Jan 2016

Kim Dokyoon, Lucas Anastasia, Glessner Joseph, Verma Shefali S, Bradford Yuki, Li Ruowang, Frase Alex T, Hakonarson Hakon, Peissig Peggy, Brilliant Murray, Ritchie Marylyn D

Abstract excerpt

Recent studies on copy number variation (CNV) have suggested that an increasing burden of CNVs is associated with susceptibility or resistance to disease. A large number of genes or genomic loci contribute to complex diseases such as autism. Thus, total genomic copy number burden, as an accumulation of copy number change, is a meaningful measure of genomic instability to identify the association between global...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cholesterol
Share to Computational Biology

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to DNA Copy Number Variations

Share to Electronic Health Records

Share to Molecular Sequence Annotation

Share to Precision Medicine

Share to Quantitative Trait Loci

Share to Software

Source

Open in PubMed Open full text

Identifiers

PMID: 26776200
PMCID: PMC4722964

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

BIOFILTER AS A FUNCTIONAL ANNOTATION PIPELINE FOR COMMON AND RARE COPY NUMBER BURDEN.PMID 26776200Read ↗

Community-Driven Copy Number Variant Discovery at Scale: Results from a Rare Disease Genomics HackathonSemantic proximity Read ↗

Copy number variants, diseases and gene expression.Semantic proximity Read ↗

CNest: A Novel Copy Number Association Discovery Method Uncovers 862 New Associations from 200,629 Whole Exome Sequence Datasets in the UK BiobankSemantic proximity Read ↗

Automated prediction of the clinical impact of structural copy number variationsSemantic proximity Read ↗

Integration of genetic, transcriptomic, and clinical data provides insight into 16p11.2 and 22q11.2 CNV genesSemantic proximity Read ↗

Integration of genetic, transcriptomic, and clinical data provides insight into 16p11.2 and 22q11.2 CNV genes.Semantic proximity Read ↗

CNVxplorer: a web tool to assist clinical interpretation of CNVs in rare disease patients.Semantic proximity Read ↗

TADA – a Machine Learning Tool for Functional Annotation based Prioritisation of Putative Pathogenic CNVsSemantic proximity Read ↗

SCAN: SNP and copy number annotation.Semantic proximity Read ↗

CNVxplorer: a web tool to assist clinical interpretation of CNVs in rare disease patientsSemantic proximity Read ↗

Statistical approaches for copy number variation detection and association with complex human phenotypesSemantic proximity Read ↗

CNV Workshop: an integrated platform for high-throughput copy number variation discovery and clinical diagnostics.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.