A Phylogenetic Approach to Analyze the Conservativeness of BRCA1 and BRCA2 Mutations.

Jiaying Lai, Indra Neil Sarkar

Open access · greenAbstract read

In one paragraph

Article in AMIA ... Annual Symposium proceedings. AMIA Symposium, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it

0cells of the map it votes in

1citing papers in PubMed

0.2field-weighted citation impact, top 48% of its field

1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

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.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed, 2 citations in OpenAlex.

LYRUS: a machine learning model for predicting the pathogenicity of missense variants.Bioinformatics advances · 2022
Article

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

2 authors at 2 institutions in 1 country.

Jiaying LaiCenter for Biomedical Informatics, Brown University, Providence, RI, USA.

Indra Neil SarkarCenter for Biomedical Informatics, Brown University, Providence, RI, USA.

Brown University · USProvidence College · US

Funding

Tracking and Evaluation CoreU54GM115677 · NIGMS · BROWN UNIVERSITY · PI ROUNDS, SHARON IRENE SMITH · 2016 to 2025

$45.0M

NIGMS NIH HHS U54 GM115677

6 · The paper itself

Abstract

Identifying pathogenic mutations in BRCA1 and BRCA2 is a critical step for breast cancer prediction. Genome-wide association studies (GWAS) are the most commonly used method for inferring pathogenic mutations. However, identifying pathogenic mutations using GWAS can be difficult. The hypothesis of this study is that the pathogenic mutations in human BRCA1/BRCA2, which are present in many species, are more likely to be located in the evolutionarily conserved sites. This study defines the evolutionary conservativeness based on the previously developed Characteristic Attribute Organization System (CAOS)

Indexed as

Genes, BRCA1Genes, BRCA2Genome-Wide Association StudyPhylogenyAdultBRCA1 ProteinBRCA2 ProteinBreast NeoplasmsFemaleGenetic Predisposition to DiseaseHumansMiddle AgedMutationOvarian NeoplasmsBRCA1 ProteinBRCA1 protein, humanBRCA2 ProteinBRCA2 protein, human

Identifiers

PMID33936442

PMCPMC8075528

OpenAlexW3159197278

What OpenQuestion holds

Textmetadata

Read underepoch 390

Registered trials

None linked

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.