(Q29615730)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24487276%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

title

A general framework for estimating the relative pathogenicity of human genetic variants (English)

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=24487276

30 April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24487276%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24487276%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

Brian J O'Roak

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24487276%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

Gregory M Cooper

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24487276%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

Jay Shendure

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24487276%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

2

Daniela M Witten

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24487276%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

author name string

Preti Jain

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24487276%20AND%20SRC:MED&resulttype=core&format=json

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=24487276

7 March 2020

language of work or name

1 reference

30 April 2017

publication date

2 February 2014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24487276%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=24487276

30 April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24487276%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

volume

46

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=24487276

30 April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24487276%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

page(s)

310-315

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24487276%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

issue

3

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=24487276

30 April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24487276%20AND%20SRC:MED&resulttype=core&format=json

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

7 March 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3992975

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

30 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3992975

Architecture of the human regulatory network derived from ENCODE data

30 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3992975

An integrated encyclopedia of DNA elements in the human genome

30 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3992975

A high-coverage genome sequence from an archaic Denisovan individual

30 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3992975

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

30 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3992975

De Novo Gene Disruptions in Children on the Autistic Spectrum

30 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3992975

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

30 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3992975

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

30 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3992975

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

30 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3992975

A systematic survey of loss-of-function variants in human protein-coding genes

30 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3992975

A copy number variation morbidity map of developmental delay

30 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3992975

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

30 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3992975

The UCSC Genome Browser database: update 2011

30 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3992975

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

30 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3992975

From noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locus

30 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3992975

Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor

30 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3992975

Trait-associated SNPs are more likely to be eQTLs: annotation to enhance discovery from GWAS

30 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3992975

A method and server for predicting damaging missense mutations

30 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3992975

Targeted capture and massively parallel sequencing of 12 human exomes

30 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3992975

Potential etiologic and functional implications of genome-wide association loci for human diseases and traits

30 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3992975

Widespread genomic signatures of natural selection in hominid evolution

30 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3992975

Genome-wide nucleotide-level mammalian ancestor reconstruction

30 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3992975

Enredo and Pecan: genome-wide mammalian consistency-based multiple alignment with paralogs

30 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3992975

High-resolution mapping and characterization of open chromatin across the genome

30 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3992975

Genome-wide mapping of in vivo protein-DNA interactions

30 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3992975

Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes

30 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3992975

Distribution and intensity of constraint in mammalian genomic sequence

30 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3992975

SIFT: Predicting amino acid changes that affect protein function

30 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3992975

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

30 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3992975

Amino acid difference formula to help explain protein evolution

30 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3992975

Base-calling of automated sequencer traces using phred. I. Accuracy assessment

30 April 2017

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNG.2892

Detection of nonneutral substitution rates on mammalian phylogenies

1 May 2017

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNG.2892

Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis.

1 May 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3992975

Genome-wide inference of natural selection on human transcription factor binding sites

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3992975

Interpretation of genomic variants using a unified biological network approach

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3992975

Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3992975

The UCSC Genome Browser database: extensions and updates 2013.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3992975

Interpreting noncoding genetic variation in complex traits and human disease

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3992975

Linking disease associations with regulatory information in the human genome

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3992975

Unsupervised pattern discovery in human chromatin structure through genomic segmentation

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3992975

Massively parallel functional dissection of mammalian enhancers in vivo

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3992975

Cost-effective, high-throughput DNA sequencing libraries for multiplexed target capture

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3992975

ENCODE whole-genome data in the UCSC Genome Browser: update 2012.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3992975

Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3992975

dbNSFP: a lightweight database of human nonsynonymous SNPs and their functional predictions

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3992975

Improving the assessment of the outcome of nonsynonymous SNVs with a consensus deleteriousness score, Condel.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3992975

PHAST and RPHAST: phylogenetic analysis with space/time models

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3992975

Identifying a high fraction of the human genome to be under selective constraint using GERP++.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3992975

Single-nucleotide evolutionary constraint scores highlight disease-causing mutations

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3992975

High-resolution analysis of DNA regulatory elements by synthetic saturation mutagenesis

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3992975

The Human Gene Mutation Database: 2008 update

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3992975

Null mutations in human and mouse orthologs frequently result in different phenotypes

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3992975

MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3992975

Diagnostic exome sequencing in persons with severe intellectual disability

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3992975

HbVar database of human hemoglobin variants and thalassemia mutations: 2007 update

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3992975

One-stop shop for disease genes

26 November 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/24487276

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

3 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=24487276

30 April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24487276%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

7 March 2020

1050728268

0 references

Mendeley publication ID

f45566f7-7ed4-3228-882b-bed8f725841f

1 reference

https://www.mendeley.com/catalogue/f45566f7-7ed4-3228-882b-bed8f725841f/

title

A general framework for estimatin... preview & related info | Mendeley (British English)

8 October 2022

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=24487276

3 references

30 April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24487276%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

3 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=24487276

30 April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24487276%20AND%20SRC:MED&resulttype=core&format=json