(Q34014340)

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A statistical framework for SNP calling, mutation discovery, association mapping and population genetical parameter estimation from sequencing data

scientific article published on September 8, 2011

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scholarly article

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Europe PubMed Central

PubMed publication ID

30 July 2017

A statistical framework for SNP calling, mutation discovery, association mapping and population genetical parameter estimation from sequencing data (English)

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Europe PubMed Central

PubMed publication ID

30 July 2017

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parameter estimation

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based on heuristic

inferred from title

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21903627

11 December 2024

single-nucleotide polymorphism

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21903627

11 December 2024

1

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Europe PubMed Central

PubMed publication ID

30 July 2017

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publication date

8 September 2011

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Europe PubMed Central

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30 July 2017

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7

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full work available at URL

https://academic.oup.com/bioinformatics/article-pdf/27/21/2987/48865923/bioinformatics_27_21_2987.pdf

online access status

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Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21903627

11 December 2024

https://europepmc.org/articles/PMC3198575

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Europe PubMed Central

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Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21903627

11 December 2024

https://europepmc.org/articles/PMC3198575?pdf=render

online access status

content deliverer

Europe PubMed Central

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21903627

11 December 2024

https://doi.org/10.1093/bioinformatics/btr509

online access status

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21903627

11 December 2024

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

27

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Europe PubMed Central

PubMed publication ID

30 July 2017

21

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

2987-2993

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

Accurate and comprehensive sequencing of personal genomes

1 reference

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5 July 2018

Variation in genome-wide mutation rates within and between human families

1 reference

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5 July 2018

Estimation of allele frequency and association mapping using next-generation sequencing data

1 reference

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5 July 2018

The variant call format and VCFtools

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3198575

5 July 2018

Genotype and SNP calling from next-generation sequencing data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3198575

5 July 2018

Sequence-specific error profile of Illumina sequencers

1 reference

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5 July 2018

A framework for variation discovery and genotyping using next-generation DNA sequencing data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3198575

5 July 2018

Low-coverage sequencing: implications for design of complex trait association studies

1 reference

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5 July 2018

Improving SNP discovery by base alignment quality

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3198575

5 July 2018

MaCH: using sequence and genotype data to estimate haplotypes and unobserved genotypes

1 reference

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5 July 2018

A map of human genome variation from population-scale sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3198575

5 July 2018

SNP detection and genotyping from low-coverage sequencing data on multiple diploid samples

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3198575

5 July 2018

SeqEM: an adaptive genotype-calling approach for next-generation sequencing studies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3198575

5 July 2018

Sequencing of 50 human exomes reveals adaptation to high altitude

1 reference

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5 July 2018

Design of association studies with pooled or un-pooled next-generation sequencing data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3198575

5 July 2018

Application of second-generation sequencing to cancer genomics

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3198575

5 July 2018

Analysis of genetic inheritance in a family quartet by whole-genome sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3198575

5 July 2018

Fast and accurate long-read alignment with Burrows-Wheeler transform

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3198575

5 July 2018

A small-cell lung cancer genome with complex signatures of tobacco exposure

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3198575

5 July 2018

A comprehensive catalogue of somatic mutations from a human cancer genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3198575

5 July 2018

Simultaneous genotype calling and haplotype phasing improves genotype accuracy and reduces false-positive associations for genome-wide association studies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3198575

5 July 2018

Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3198575

5 July 2018

Human triallelic sites: evidence for a new mutational mechanism?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3198575

5 July 2018

Mutational evolution in a lobular breast tumour profiled at single nucleotide resolution

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3198575

5 July 2018

Genotype imputation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3198575

5 July 2018

Recurring mutations found by sequencing an acute myeloid leukemia genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3198575

5 July 2018

A flexible and accurate genotype imputation method for the next generation of genome-wide association studies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3198575

5 July 2018

The Sequence Alignment/Map format and SAMtools

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3198575

5 July 2018

Fast and accurate short read alignment with Burrows-Wheeler transform

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3198575

5 July 2018

DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3198575

5 July 2018

Accurate whole human genome sequencing using reversible terminator chemistry

1 reference

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5 July 2018

Enredo and Pecan: genome-wide mammalian consistency-based multiple alignment with paralogs

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3198575

5 July 2018

Mapping short DNA sequencing reads and calling variants using mapping quality scores

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3198575

5 July 2018

Score tests for association between traits and haplotypes when linkage phase is ambiguous

1 reference

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5 July 2018

Maximum-likelihood estimation of molecular haplotype frequencies in a diploid population

1 reference

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Resequencing of 200 human exomes identifies an excess of low-frequency non-synonymous coding variants

1 reference

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21 January 2018

Identifiers

10.1093/BIOINFORMATICS/BTR509

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

1 reference

DBLP publication ID

journals/bioinformatics/Li11b

1 reference

DBLP Dataset 2021-01-02

28 January 2021

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

ResearchGate publication ID

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