(Q57048739)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30279509%20AND%20SRC:MED&resulttype=core&format=json

26 April 2020

title

Functional equivalence of genome sequencing analysis pipelines enables harmonized variant calling across human genetics projects (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30279509%20AND%20SRC:MED&resulttype=core&format=json

26 April 2020

0 references

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30279509%20AND%20SRC:MED&resulttype=core&format=json

26 April 2020

Yossi Farjoun

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30279509%20AND%20SRC:MED&resulttype=core&format=json

26 April 2020

David E Larson

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30279509%20AND%20SRC:MED&resulttype=core&format=json

26 April 2020

Jinchuan Xing

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30279509%20AND%20SRC:MED&resulttype=core&format=json

26 April 2020

Yeting Zhang

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30279509%20AND%20SRC:MED&resulttype=core&format=json

26 April 2020

Tara C. Matise

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30279509%20AND%20SRC:MED&resulttype=core&format=json

26 April 2020

Benjamin M. Neale

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30279509%20AND%20SRC:MED&resulttype=core&format=json

26 April 2020

author name string

Olga Krasheninina

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30279509%20AND%20SRC:MED&resulttype=core&format=json

26 April 2020

Hyun Min Kang

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30279509%20AND%20SRC:MED&resulttype=core&format=json

26 April 2020

Daniel P Howrigan

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30279509%20AND%20SRC:MED&resulttype=core&format=json

26 April 2020

Bo-Juen Chen

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30279509%20AND%20SRC:MED&resulttype=core&format=json

26 April 2020

Manisha Kher

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30279509%20AND%20SRC:MED&resulttype=core&format=json

26 April 2020

Eric Banks

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30279509%20AND%20SRC:MED&resulttype=core&format=json

26 April 2020

Darren C Ames

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30279509%20AND%20SRC:MED&resulttype=core&format=json

26 April 2020

Adam C English

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30279509%20AND%20SRC:MED&resulttype=core&format=json

26 April 2020

Heng Li

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30279509%20AND%20SRC:MED&resulttype=core&format=json

26 April 2020

Goncalo R Abecasis

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30279509%20AND%20SRC:MED&resulttype=core&format=json

26 April 2020

Will Salerno

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30279509%20AND%20SRC:MED&resulttype=core&format=json

26 April 2020

Ira M Hall

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30279509%20AND%20SRC:MED&resulttype=core&format=json

26 April 2020

Michael C Zody

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30279509%20AND%20SRC:MED&resulttype=core&format=json

26 April 2020

language of work or name

English

0 references

publication date

2 October 2018

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30279509%20AND%20SRC:MED&resulttype=core&format=json

26 April 2020

published in

Nature Communications

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30279509%20AND%20SRC:MED&resulttype=core&format=json

26 April 2020

volume

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30279509%20AND%20SRC:MED&resulttype=core&format=json

26 April 2020

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30279509%20AND%20SRC:MED&resulttype=core&format=json

26 April 2020

page(s)

4038

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30279509%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1038/s41467-018-06159-4

26 April 2020

exact match

0 references

cites work

Whole genome sequencing in psychiatric disorders: the WGSPD consortium.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6168605

Genomic Patterns of De Novo Mutation in Simplex Autism.

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6168605

A reference panel of 64,976 haplotypes for genotype imputation

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6168605

Analysis of protein-coding genetic variation in 60,706 humans

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6168605

GENOMICS. A federated ecosystem for sharing genomic, clinical data

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6168605

A global reference for human genetic variation

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6168605

The UK10K project identifies rare variants in health and disease

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6168605

SpeedSeq: ultra-fast personal genome analysis and interpretation

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6168605

An efficient and scalable analysis framework for variant extraction and refinement from population-scale DNA sequence data

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6168605

Sambamba: fast processing of NGS alignment formats.

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6168605

Extending reference assembly models

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6168605

A new initiative on precision medicine

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6168605

LUMPY: a probabilistic framework for structural variant discovery.

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6168605

SAMBLASTER: fast duplicate marking and structural variant read extraction

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6168605

Integrating human sequence data sets provides a resource of benchmark SNP and indel genotype calls

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6168605

An integrated map of genetic variation from 1,092 human genomes

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6168605

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

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6168605

Efficient storage of high throughput DNA sequencing data using reference-based compression

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6168605

Tackling the widespread and critical impact of batch effects in high-throughput data

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6168605

The Sequence Alignment/Map format and SAMtools

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6168605

10.1038/S41467-018-06159-4

2 November 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30279509%20AND%20SRC:MED&resulttype=core&format=json

26 April 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30279509%20AND%20SRC:MED&resulttype=core&format=json

26 April 2020

PubMed publication ID

30279509

1 reference