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

Curated multiple sequence alignment for the Adenomatous Polyposis Coli (APC) gene and accuracy of in silico pathogenicity predictions.

PloS one - 1 Jan 2020

Karabachev Alexander D, Martini Dylan J, Hermel David J, Solcz Dana, Richardson Marcy E, Pesaran Tina, Sarkar Indra Neil, Greenblatt Marc S

Abstract excerpt

Computational algorithms are often used to assess pathogenicity of Variants of Uncertain Significance (VUS) that are found in disease-associated genes. Most computational methods include analysis of protein multiple sequence alignments (PMSA), assessing interspecies variation. Careful validation of PMSA-based methods has been done for relatively few genes, partially because creation of curated PMSAs is...

Read the complete abstract on PubMed

Topics

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

Share to Adenomatous Polyposis Coli
Share to Adenomatous Polyposis Coli Protein

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Computer Simulation

Share to Databases, Protein

Share to Enhancer Elements, Genetic

Share to Genes, APC

Share to Protein Isoforms

Share to RNA Splice Sites

Source

Open in PubMed Open full text

Identifiers

PMID: 32750050
DOI: 10.1371/journal.pone.0233673
PMCID: PMC7402488

Genes

APC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Curated multiple sequence alignment for the Adenomatous Polyposis Coli (APC) gene and accuracy of in silico pathogenicity predictions.PMID 32750050Read ↗

Curated Multiple Sequence Alignment for the Adenomatous Polyposis Coli ( <i>APC</i> ) Gene and Accuracy of <i>In Silico</i> Pathogenicity PredictionsSemantic proximity Read ↗

Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS.Semantic proximity Read ↗

Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel.Semantic proximity Read ↗

Mutational screening through comprehensive bioinformatics analysis to detect novel germline mutations in the APC gene in patients with familial adenomatous polyposis (FAP).Semantic proximity Read ↗

Systematic large-scale application of ClinGen InSiGHT<i>APC</i>-specific ACMG/AMP variant classification criteria substantially alleviates the burden of variants of uncertain significance in ClinVar and LOVD databasesSemantic proximity Read ↗

In silico analysis of missense substitutions using sequence-alignment based methods.Semantic proximity Read ↗

Analysis of rare APC variants at the mRNA level: six pathogenic mutations and literature review.Semantic proximity Read ↗

Novel and reported APC germline mutations in Chinese patients with familial adenomatous polyposis.Semantic proximity Read ↗

Multiple rare nonsynonymous variants in the adenomatous polyposis coli gene predispose to colorectal adenomas.Semantic proximity Read ↗

Improved, ACMG-compliant, in silico prediction of pathogenicity for missense substitutions encoded by TP53 variantsSemantic proximity Read ↗

Identification of Novel Pathogenic Variants in Familial Adenomatous Polyposis Through Whole Genome Sequencing.Semantic proximity Read ↗

Classification of mismatch repair gene missense variants with PON-MMRSemantic proximity Read ↗

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