Evidence map›Paper›PMID 26231429›Full record

ArticleBioinformatics (Oxford, England)2015

PBAP: a pipeline for file processing and quality control of pedigree data with dense genetic markers.

Alejandro Q Nato, Nicola H Chapman, Harkirat K Sohi, Hiep D Nguyen, Zoran Brkanac, Ellen M Wijsman

Abstract read
In one paragraph

Article in Bioinformatics (Oxford, England), 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing 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

8 citing papers in PubMed.

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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

6 authors.

Alejandro Q NatoDivision of Medical Genetics, Department of Medicine.
Nicola H ChapmanDivision of Medical Genetics, Department of Medicine.
Harkirat K SohiDivision of Medical Genetics, Department of Medicine.
Hiep D NguyenDivision of Medical Genetics, Department of Medicine.
Zoran BrkanacDepartment of Psychiatry and Behavioral Sciences.
Ellen M WijsmanDivision of Medical Genetics, Department of Medicine, Department of Biostatistics and Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA.

Funding

NATIONAL ALZHEIMERS COORDINATING CENTER (NACC)U01AG016976 · NIA · UNIVERSITY OF WASHINGTON · PI KUKULL, WALTER ANTHONY · 1999 to 2020
$72.8M
THERAPEUTIC EFFECTS OF INTRA-NASAL INSULIN DETEMIRP50AG005136 · NIA · UNIVERSITY OF WASHINGTON · PI GRABOWSKI, THOMAS J. · 1985 to 2019
$57.2M
Methods for the Genetic Epidemiology of Complex TraitsR37GM046255 · NIGMS · UNIVERSITY OF WASHINGTON · PI THOMPSON, ELIZABETH ALISON · 2008 to 2017
$4.2M
Next Generation Gene Discovery in Familial AutismR01MH092367 · NIMH · UNIVERSITY OF WASHINGTON · PI BRKANAC, ZORAN · 2011 to 2015
$3.3M
Next Generation Mendelian Genetics in Familial Alzheimer DiseaseR01AG039700 · NIA · UNIVERSITY OF WASHINGTON · PI BRKANAC, ZORAN · 2011 to 2015
$2.9M
Sequence-based Discovery of AD Risk & Protective AllelesU01AG049507 · NIA · UNIVERSITY OF WASHINGTON · PI WIJSMAN, ELLEN M · 2014 to 2017
$2.9M
2/3 Sequencing Autism Spectrum Disorder Extended PedigreesR01MH094293 · NIMH · UNIVERSITY OF WASHINGTON · PI WIJSMAN, ELLEN M · 2012 to 2016
$1.1M
NIA NIH HHS P50 AG005136NIA NIH HHS R01 AG039700NIA NIH HHS U01 AG016976NIA NIH HHS U01 AG049507NIGMS NIH HHS R37 GM046255NIMH NIH HHS R01 MH092367NIMH NIH HHS R01 MH094293
6 · The paper itself

Abstract

motivationHuge genetic datasets with dense marker panels are now common. With the availability of sequence data and recognition of importance of rare variants, smaller studies based on pedigrees are again also common. Pedigree-based samples often start with a dense marker panel, a subset of which may be used for linkage analysis to reduce computational burden and to limit linkage disequilibrium between single-nucleotide polymorphisms (SNPs). Programs attempting to select markers for linkage panels exist but lack flexibility.

resultsWe developed a pedigree-based analysis pipeline (PBAP) suite of programs geared towards SNPs and sequence data. PBAP performs quality control, marker selection and file preparation. PBAP sets up files for MORGAN, which can handle analyses for small and large pedigrees, typically human, and results can be used with other programs and for downstream analyses. We evaluate and illustrate its features with two real datasets. AVAILABILITY AND IMPLEMENTATION: PBAP scripts may be downloaded from http://faculty.washington.edu/wijsman/software.shtml. CONTACT: wijsman@uw.edu. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.

Indexed as

Genetic LinkageGenetic MarkersSoftwareAutism Spectrum DisorderFemaleHumansLinkage DisequilibriumMalePedigreePolymorphism, Single NucleotideQuality ControlGenetic Markers

Identifiers

PMID26231429
PMCPMC4668752

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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.