Evidence map›Paper›PMID 22064853›Full record

ArticleNucleic acids research2012

A cross-sample statistical model for SNP detection in short-read sequencing data.

Omkar Muralidharan, Georges Natsoulis, John Bell, Daniel Newburger, Hua Xu, Itai Kela, Hanlee Ji, Nancy Zhang

Abstract read
In one paragraph

Article in Nucleic acids research, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing 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

4 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
  4. Accuracy of Next Generation Sequencing Platforms.Next generation, sequencing & applications
    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

8 authors.

Omkar MuralidharanDepartment of Statistics, Stanford University, 390 Serra Mall, Stanford, CA, 94305, USA.
Georges Natsoulis
John Bell
Daniel Newburger
Hua Xu
Itai Kela
Hanlee Ji
Nancy Zhang

Funding

WHOLE YEAST GENOME TRANSCRIPTIONAL AND FUNCTIONAL GENE MAPS--A FEASIBILITY STUDYP01HG000205 · NHGRI · STANFORD UNIVERSITY · PI DAVIS, RONALD WAYNE, HOWE, ROGER THOMAS · 1990 to 2016
$120.9M
POSTDOCTORAL TRAINING IN MEDICAL INFORMATION SCIENCEST15LM007033 · NLM · STANFORD UNIVERSITY · PI SYLVIA KATINA PLEVRITIS · 1985 to 2026
$25.5M
Proteomics/GenomicsP30DK056339 · NIDDK · STANFORD UNIVERSITY · PI GREENBERG, HARRY BERNARD · 2001 to 2010
$10.4M
Statistical Models for Genome Sequencing and AssociationR01HG006137 · NHGRI · UNIVERSITY OF PENNSYLVANIA · PI JI, HANLEE P, ZHANG, NANCY R · 2011 to 2022
$4.3M
A Strategy for High Quality Clinical Resequencing of the Human GenomeRC2HG005570 · NHGRI · STANFORD UNIVERSITY · PI DAVIS, RONALD WAYNE · 2009 to 2010
$2.8M
Mutation Analysis Of Paraffin-Embedded Tumors With Next Generation SequencingR21CA140089 · NCI · STANFORD UNIVERSITY · PI JI, HANLEE P · 2010 to 2011
$378k
Howard Hughes Medical InstituteNCI NIH HHS 5K08CA968796NCI NIH HHS R21CA12848NCI NIH HHS R21CA140089NHGRI NIH HHS 2P01HG000205NHGRI NIH HHS R01 HG006137NHGRI NIH HHS R01 HG006137-01NHGRI NIH HHS RC2 HG005570-01NIDDK NIH HHS DK56339NLM NIH HHS T15LM007033
6 · The paper itself

Abstract

Highly multiplex DNA sequencers have greatly expanded our ability to survey human genomes for previously unknown single nucleotide polymorphisms (SNPs). However, sequencing and mapping errors, though rare, contribute substantially to the number of false discoveries in current SNP callers. We demonstrate that we can significantly reduce the number of false positive SNP calls by pooling information across samples. Although many studies prepare and sequence multiple samples with the same protocol, most existing SNP callers ignore cross-sample information. In contrast, we propose an empirical Bayes method that uses cross-sample information to learn the error properties of the data. This error information lets us call SNPs with a lower false discovery rate than existing methods.

Indexed as

Models, StatisticalPolymorphism, Single NucleotideAllelesGenotyping TechniquesHigh-Throughput Nucleotide SequencingSequence Analysis, DNA

Identifiers

PMID22064853
PMCPMC3245949

What OpenQuestion holds

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LicenceCC BY-NC
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.