Evidence map›Paper›PMID 40083425›Full record

ArticleF1000Research2021

GARCOM: A user-friendly R package for genetic mutation counts.

Sanjeev Sariya, Giuseppe Tosto

Abstract read
In one paragraph

Article in F1000Research, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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.

Sanjeev SariyaThe Gertrude H. Sergievsky Center College of Physicians and Surgeons, Columbia University Medical Center, New York, NY, 10032, USA.ORCID 0000-0002-3104-2348
Giuseppe TostoThe Gertrude H. Sergievsky Center College of Physicians and Surgeons, Columbia University Medical Center, New York, NY, 10032, USA.ORCID 0000-0001-7075-8245

Funding

Research Education CoreP30AG066462 · NIA · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI PHILIP L DE JAGER · 2020 to 2026
$30.1M
Whole genome sequencing of the Mexican Health Aging Study (MHAS) cohortR56AG066889 · NIA · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI BARRAL RODRIGUEZ, SANDRA, TOSTO, GIUSEPPE · 2020 to 2020
$1.6M
Genetic and environmental risk factors in mestizos and indigenous populations of Peru: the role of Native component in Alzheimer's diseaseR56AG069118 · NIA · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI TOSTO, GIUSEPPE · 2020 to 2020
$1.1M
NIA NIH HHS P30 AG066462NIA NIH HHS R56 AG066889NIA NIH HHS R56 AG069118
6 · The paper itself

Abstract

Next-generation sequencing (NGS) has enabled analysis of rare and uncommon variants in large study cohorts. A common strategy to overcome these low frequencies and/or small effect sizes relies on collapsing strategies, i.e. to bin variants within genes/regions. Several tools are now available for advanced statistical analyses; however, tools to perform basic tasks such as obtaining allelic counts within defined gene/region boundaries are unavailable or require complex coding. GARCOM ("Gene And Region Count Of Mutations") library, an open-source freely available package in R language, returns a matrix with allelic counts within genes/regions per sample. GARCOM accepts input data in PLINK or VCF formats, with additional options to subset data for refined analyses.

Indexed as

High-Throughput Nucleotide SequencingMutationSoftwareHumansallelegeneticsmutationplinkVCF

Identifiers

PMID40083425
PMCPMC11904396

What Socratic holds

Textmetadata
LicenceCC BY
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.