(Q33735593)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21041413%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

title

High-throughput discovery of rare insertions and deletions in large cohorts (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21041413%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21041413%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Robi D Mitra

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21041413%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

5

Ingrid Borecki

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21041413%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

6

Michael Province

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21041413%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

author name string

Francesco L M Vallania

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21041413%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Enrique Ramos

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21041413%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Jue Wang

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21041413%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

publication date

1 November 2010

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21041413%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21041413%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

volume

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21041413%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

issue

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21041413%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

page(s)

1711-1718

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21041413%20AND%20SRC:MED&resulttype=core&format=json

A statistical method for the detection of variants from next-generation resequencing of DNA pools

15 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2989997

Target-enrichment strategies for next-generation sequencing

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2989997

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2989997

Genome evolution and adaptation in a long-term experiment with Escherichia coli

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2989997

Finding the missing heritability of complex diseases

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2989997

VarScan: variant detection in massively parallel sequencing of individual and pooled samples

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2989997

The Sequence Alignment/Map format and SAMtools

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2989997

DNA Sudoku--harnessing high-throughput sequencing for multiplexed specimen analysis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2989997

Common genetic variation and human traits

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2989997

Quantification of rare allelic variants from pooled genomic DNA

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2989997

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2989997

Genetic variation in an individual human exome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2989997

Methods for detecting associations with rare variants for common diseases: application to analysis of sequence data

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2989997

Rare independent mutations in renal salt handling genes contribute to blood pressure variation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2989997

SNP discovery and allele frequency estimation by deep sequencing of reduced representation libraries

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2989997

Molecular heterogeneity of breast carcinomas and the cancer stem cell hypothesis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2989997

Medical sequencing at the extremes of human body mass

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2989997

Rare variant hypothesis for multifactorial inheritance: susceptibility to colorectal adenomas as a model

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2989997

Multiple rare variants in different genes account for multifactorial inherited susceptibility to colorectal adenomas

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2989997

Multiple Rare Alleles Contribute to Low Plasma Levels of HDL Cholesterol

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2989997

Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2989997

On the allelic spectrum of human disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2989997

Experimental evolution of bet hedging.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2989997

Overlapping pools for high-throughput targeted resequencing

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2989997

The Human Gene Mutation Database: 2008 update

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2989997

Most pooling variation in array-based DNA pooling is attributable to array error rather than pool construction error.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2989997

30 October 2018

Identifiers

DOI

10.1101/GR.109157.110

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21041413%20AND%20SRC:MED&resulttype=core&format=json

release_2bhcl3juvjgszgv4hy2skdbkky

15 January 2020

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/2bhcl3juvjgszgv4hy2skdbkky

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21041413%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

1 reference