Evidence map›Paper›PMID 39005490›Full record

ArticlePatterns (New York, N.Y.)2024

PYPE: A pipeline for phenome-wide association and Mendelian randomization in investigator-driven biobank scale analysis.

Taykhoom Dalal, Chirag J Patel

Abstract read
In one paragraph

Article in Patterns (New York, N.Y.), 2024. 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
–field-weighted citation impact
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.

  1. 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.

Taykhoom DalalHarvard Medical School Department of Biomedical Informatics, Boston, MA 02115, USA.
Chirag J PatelHarvard Medical School Department of Biomedical Informatics, Boston, MA 02115, USA.

Funding

Data science tools to identify robust exposure-phenotype associations for precision medicineR01ES032470 · NIEHS · HARVARD MEDICAL SCHOOL · PI MANRAI, ARJUN KUMAR, PATEL, CHIRAG J. · 2021 to 2025
$3.5M
NIEHS NIH HHS R01 ES032470
6 · The paper itself

Abstract

Phenome-wide association studies (PheWASs) serve as a way of documenting the relationship between genotypes and multiple phenotypes, helping to uncover unexplored genotype-phenotype associations (known as pleiotropy). Secondly, Mendelian randomization (MR) can be harnessed to make causal statements about a pair of phenotypes by comparing their genetic architecture. Thus, approaches that automate both PheWASs and MR can enhance biobank-scale analyses, circumventing the need for multiple tools by providing a comprehensive, end-to-end tool to drive scientific discovery. To this end, we present PYPE, a Python pipeline for running, visualizing, and interpreting PheWASs. PYPE utilizes input genotype or phenotype files to automatically estimate associations between the chosen independent variables and phenotypes. PYPE can also produce a variety of visualizations and can be used to identify nearby genes and functional consequences of significant associations. Finally, PYPE can identify possible causal relationships between phenotypes using MR under a variety of causal effect modeling scenarios.

Indexed as

genome-wide association studiesMendelian randomizationphenome-wide association studiespython

Identifiers

PMID39005490
PMCPMC11240175

What Socratic holds

Textmetadata
LicenceCC BY-NC-ND
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 Socratic graph.