(Q28535096)

2

Peggy

Sabri

1 reference

20 October 2023

Na Zhu

3

Na

Zhu

1 reference

20 October 2023

Verena Heinrich

4

Verena

Heinrich

1 reference

20 October 2023

Dmitri Parkhomchuk

7

Dmitri

Creative Commons Attribution 4.0 International

Parkhomchuk

1 reference

20 October 2023

language of work or name

English

0 references

publication date

2013

0 references

published in

PLOS One

0 references

volume

8

0 references

issue

8

0 references

page(s)

e70151

0 references

copyright license

start time

5 August 2013

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Annotate-it: a Swiss-knife approach to annotation, analysis and interpretation of single nucleotide variation in human disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3734130

The GENCODE pseudogene resource

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3734130

GeneTalk: an expert exchange platform for assessing rare sequence variants in personal genomes

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3734130

Patterns and rates of exonic de novo mutations in autism spectrum disorders

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3734130

A map of human genome variation from population-scale sequencing

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3734130

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3734130

Pseudogene.org: a comprehensive database and comparison platform for pseudogene annotation

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3734130

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3734130

Evolution and functional impact of rare coding variation from deep sequencing of human exomes

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3734130

Computational tools for prioritizing candidate genes: boosting disease gene discovery

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3734130

Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3734130

A comprehensive framework for prioritizing variants in exome sequencing studies of Mendelian diseases

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3734130

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3734130

Identity-by-descent filtering of exome sequence data for disease-gene identification in autosomal recessive disorders

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3734130

Linking genes to diseases: it's all in the data.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3734130

BioMart Central Portal--unified access to biological data

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3734130

An unbiased evaluation of gene prioritization tools

29 September 2017

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23940540

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1371/JOURNAL.PONE.0070151

1 reference

1017736

ADS bibcode

2013PLoSO...870151K

0 references

1017736

1 reference

1 reference

1 reference