Targeted capture and massively parallel sequencing of 12 human exomes (Q24615381)

13

0 references

Evan E. Eichler

10

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Emily H Turner

Emily H Turner

2

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Deborah A Nickerson

12

Deborah A Nickerson

0 references

Choli Lee

6

Choli Lee

0 references

Michael J Bamshad

11

Michael Bamshad

0 references

Abigail W Bigham

5

Abigail W Bigham

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Arindam Bhattacharjee

9

Arindam Bhattacharjee

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author name string

Sarah B Ng

1

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Peggy D Robertson

3

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Steven D Flygare

4

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Tristan Shaffer

7

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Michelle Wong

Exomic sequencing identifies PALB2 as a pancreatic cancer susceptibility gene

8

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language of work or name

English

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publication date

10 September 2009

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published in

Nature

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volume

461

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issue

7261

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page(s)

272-6

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cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2844771

DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2844771

The diploid genome sequence of an Asian individual

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2844771

Accurate whole human genome sequencing using reversible terminator chemistry

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2844771

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2844771

Genetic variation in an individual human exome

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2844771

Mapping and sequencing of structural variation from eight human genomes

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2844771

Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2844771

The diploid genome sequence of an individual human

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2844771

Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2844771

A haplotype map of the human genome

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2844771

When less is more: gene loss as an engine of evolutionary change

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2844771

The complete genome of an individual by massively parallel DNA sequencing

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2844771

Multiple Rare Alleles Contribute to Low Plasma Levels of HDL Cholesterol

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2844771

The consensus coding sequences of human breast and colorectal cancers

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2844771

Base-calling of automated sequencer traces using phred. II. Error probabilities

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2844771

Next-generation DNA sequencing

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2844771

Human genetic variation and its contribution to complex traits

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2844771

Prediction of deleterious human alleles

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2844771

Genome-wide in situ exon capture for selective resequencing

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2844771

Massively parallel exon capture and library-free resequencing across 16 genomes

10 May 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2844771

Power of deep, all-exon resequencing for discovery of human trait genes

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2844771

A genome-wide survey of the prevalence and evolutionary forces acting on human nonsense SNPs

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2844771

Haplotype sorting using human fosmid clone end-sequence pairs

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2844771

Assessing the evolutionary impact of amino acid mutations in the human genome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2844771

Direct selection of human genomic loci by microarray hybridization

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2844771

Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2844771

Enrichment of super-sized resequencing targets from the human genome

27 September 2017

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19684571

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

1 reference

https://pubmed.ncbi.nlm.nih.gov/19684571

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/NATURE08250

1 reference

Dimensions Publication ID

1038593056

0 references

1 reference

1 reference

PubMed publication ID

19684571

1 reference