(Q33691366)

28 July 2017

The characterization of twenty sequenced human genomes (English)

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28 July 2017

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28 July 2017

Ruth Ottman

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Jacques Fellay

object named as

Jacques Fellay

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Barton Haynes

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object named as

Barton F Haynes

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28 July 2017

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James J Goedert

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28 July 2017

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Kevin V Shianna

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28 July 2017

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Erin L Heinzen

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28 July 2017

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David B Goldstein

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28 July 2017

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Dongliang Ge

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28 July 2017

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Jessica M Maia

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28 July 2017

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Curtis E Gumbs

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28 July 2017

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Kimberly Pelak

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28 July 2017

Mingfu Zhu

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28 July 2017

Jason P Smith

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28 July 2017

Samuel P Dickson

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28 July 2017

Elizabeth K Ruzzo

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28 July 2017

Abanish Singh

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28 July 2017

C Ryan Campbell

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28 July 2017

Linda K Hong

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28 July 2017

Katharina A Lornsen

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28 July 2017

Alexander M McKenzie

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28 July 2017

Nara L M Sobreira

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28 July 2017

Julie E Hoover-Fong

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28 July 2017

Joshua D Milner

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28 July 2017

language of work or name

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9 September 2010

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28 July 2017

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6

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28 July 2017

e1001111

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28 July 2017

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Creative Commons CC0 License

28 July 2017

start time

9 September 2010

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April 2022 Public Data File from Crossref

copyright status

copyrighted, dedicated to the public domain by copyright holder

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cites work

Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936541

Challenges of sequencing human genomes

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936541

The mutation spectrum revealed by paired genome sequences from a lung cancer patient

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936541

Uncovering the roles of rare variants in common disease through whole-genome sequencing

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936541

Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936541

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936541

High quality SNP calling using Illumina data at shallow coverage.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936541

Microindel detection in short-read sequence data

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936541

Exome sequencing identifies the cause of a mendelian disorder

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936541

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936541

Personalized copy number and segmental duplication maps using next-generation sequencing.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936541

Targeted capture and massively parallel sequencing of 12 human exomes

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936541

BreakDancer: an algorithm for high-resolution mapping of genomic structural variation

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936541

The Sequence Alignment/Map format and SAMtools

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936541

The first Korean genome sequence and analysis: full genome sequencing for a socio-ethnic group

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936541

Fast and accurate short read alignment with Burrows-Wheeler transform

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936541

Next-generation pyrosequencing of gonad transcriptomes in the polyploid lake sturgeon (Acipenser fulvescens): the relative merits of normalization and rarefaction in gene discovery

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936541

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936541

DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936541

The diploid genome sequence of an Asian individual

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936541

Accurate whole human genome sequencing using reversible terminator chemistry

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936541

Integrated detection and population-genetic analysis of SNPs and copy number variation

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936541

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936541

Genetic variation in an individual human exome

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936541

The complete genome of an individual by massively parallel DNA sequencing

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936541

A second generation human haplotype map of over 3.1 million SNPs

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936541

PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936541

The diploid genome sequence of an individual human

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936541

Principal components analysis corrects for stratification in genome-wide association studies

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936541

The HUGO Gene Nomenclature Database, 2006 updates

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936541

Detection of large-scale variation in the human genome

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936541

Human specific loss of olfactory receptor genes

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936541

Characteristic mRNA abnormality found in half the patients with severe haemophilia A is due to large DNA inversions

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936541

Molecular etiology of factor VIII deficiency in hemophilia A.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2936541

10.1371/JOURNAL.PGEN.1001111

14 July 2018

Identifiers

DOI

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28 July 2017

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28 July 2017

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