(Q21144940)

7

object named as

Michelle Whirl-Carrillo

Michelle

Whirl-Carrillo

1 reference

17 August 2022

18

Emidio Capriotti

Emidio

Capriotti

1 reference

17 August 2022

Konrad J Karczewski

6

Konrad J

Karczewski

1 reference

17 August 2022

Sean P David

19

Sean P

David

1 reference

17 August 2022

Heidi L Rehm

25

Heidi L

Rehm

1 reference

17 August 2022

George M Church

26

George M

Church

1 reference

17 August 2022

32

Atul J Butte

Atul J

Butte

1 reference

17 August 2022

30

Russ B Altman

Russ B

Altman

1 reference

17 August 2022

29

Michael Snyder

Michael

Snyder

1 reference

17 August 2022

8

Matthew T

Wheeler

Matthew T Wheeler

1 reference

17 August 2022

5

Colleen

Caleshu

Colleen Caleshu

1 reference

17 August 2022

13

Mark

Woon

Mark Woon

1 reference

17 August 2022

14

Katrin

Sangkuhl

Katrin Sangkuhl

1 reference

17 August 2022

22

Joseph V

Thakuria

Joseph V Thakuria

1 reference

17 August 2022

31

Teri E

Klein

Teri E Klein

1 reference

17 August 2022

Frederick E Dewey

1

Frederick E

Dewey

1 reference

17 August 2022

Rong Chen

2

Rong

Chen

1 reference

17 August 2022

Sergio P Cordero

3

Sergio P

Cordero

1 reference

17 August 2022

Kelly E Ormond

4

Kelly E

Ormond

1 reference

17 August 2022

Joel T Dudley

9

Joel T

Dudley

1 reference

17 August 2022

Jake K Byrnes

10

Jake K

Byrnes

1 reference

17 August 2022

Omar E Cornejo

11

Omar E

Cornejo

1 reference

17 August 2022

Joshua W Knowles

12

Joshua W

Knowles

1 reference

17 August 2022

Li Gong

15

Li

Gong

1 reference

17 August 2022

Caroline F Thorn

16

Caroline F

Thorn

1 reference

17 August 2022

Joan M Hebert

17

Joan M

Hebert

1 reference

17 August 2022

Aleksandra Pavlovic

20

Aleksandra

Pavlovic

1 reference

17 August 2022

Anne West

21

Anne

West

1 reference

17 August 2022

Madeleine P Ball

23

Madeleine P

Ball

1 reference

17 August 2022

Alexander W Zaranek

24

Alexander W

Zaranek

1 reference

17 August 2022

John S West

27

John S

West

1 reference

17 August 2022

Euan A Ashley

33

Euan A

Creative Commons Attribution 4.0 International

Ashley

1 reference

17 August 2022

language of work or name

English

0 references

publication date

September 2011

0 references

published in

PLOS Genetics

0 references

volume

7

0 references

page(s)

e1002280

0 references

issue

9

0 references

copyright license

start time

15 September 2011

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

A map of human genome variation from population-scale sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3174201

Clinical assessment incorporating a personal genome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3174201

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=3174201

Prdm9 controls activation of mammalian recombination hotspots

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3174201

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3174201

Fast and accurate short read alignment with Burrows-Wheeler transform

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3174201

NCBI reference sequences (RefSeq): a curated non-redundant sequence database of genomes, transcripts and proteins

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3174201

Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3174201

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA 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=3174201

A method and server for predicting damaging missense mutations

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3174201

Marburg I polymorphism of factor VII-activating protease is associated with idiopathic venous thromboembolism

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3174201

The frequent Marburg I polymorphism impairs the pro-urokinase activating potency of the factor VII activating protease (FSAP)

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3174201

Venous thrombosis due to poor anticoagulant response to activated protein C: Leiden Thrombophilia Study

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3174201

Evolutionary Rate at the Molecular Level

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3174201

On the number of segregating sites in genetical models without recombination

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3174201

SIFT: Predicting amino acid changes that affect protein function

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3174201

A high-resolution recombination 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=3174201

SNAP: a web-based tool for identification and annotation of proxy SNPs using HapMap

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3174201

Distribution and intensity of constraint in mammalian genomic sequence

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3174201

Comprehensive human genetic maps: individual and sex-specific variation in recombination

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3174201

Clinical Pharmacogenetics Implementation Consortium guidelines for cytochrome P450-2C19 (CYP2C19) genotype and clopidogrel therapy

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3174201

Type 1 diabetes: etiology, immunology, and therapeutic strategies

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3174201

Carrier testing for severe childhood recessive diseases by next-generation sequencing

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3174201

Effect of direct-to-consumer genomewide profiling to assess disease risk

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3174201

The reference human genome demonstrates high risk of type 1 diabetes and other disorders.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3174201

Factor V Leiden thrombophilia

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3174201

A multilocus genetic risk score for coronary heart disease: case-control and prospective cohort analyses

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3174201

Celiac disease: how complicated can it get?

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3174201

Single-nucleotide evolutionary constraint scores highlight disease-causing mutations

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3174201

Drive against hotspot motifs in primates implicates the PRDM9 gene in meiotic recombination

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3174201

PRDM9 is a major determinant of meiotic recombination hotspots in humans and mice

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3174201

Parental origin of sequence variants associated with complex diseases

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3174201

Effect of read-mapping biases on detecting allele-specific expression from RNA-sequencing data

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3174201

Disclosure of APOE genotype for risk of Alzheimer's disease

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3174201

Estimation of the warfarin dose with clinical and pharmacogenetic data

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3174201

The Population Reference Sample, POPRES: a resource for population, disease, and pharmacological genetics research

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3174201

The recombinational anatomy of a mouse chromosome.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3174201

Sequence variants in the RNF212 gene associate with genome-wide recombination rate

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3174201

The G534E polymorphism of the gene encoding the factor VII-activating protease is associated with cardiovascular risk due to increased neointima formation

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3174201

A high-resolution HLA and SNP haplotype map for disease association studies in the extended human MHC.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3174201

The incidentalome: a threat to genomic medicine

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3174201

An update of the HLA genomic region, locus information and disease associations: 2004.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3174201

The personal genome--the future of personalised medicine?

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3174201

Interrelation of hyperhomocyst(e)inemia, factor V Leiden, and risk of future venous thromboembolism

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3174201

Fine-scale recombination rate differences between sexes, populations and individuals.

27 September 2017

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002280

Crossover interference underlies sex differences in recombination rates.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002280

High-resolution mapping of crossovers reveals extensive variation in fine-scale recombination patterns among humans.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002280

Toward Defining the Course of Evolution: Minimum Change for a Specific Tree Topology

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002280

The methylenetetrahydrofolate reductase TT677 genotype is associated with venous thrombosis independently of the coexistence of the FV Leiden and the prothrombin A20210 mutation.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3174201

Challenges in the clinical application of whole-genome sequencing

29 November 2018

1 reference

12 December 2020

Mutation in the gene coding for coagulation factor V and the risk of myocardial infarction, stroke, and venous thrombosis in apparently healthy men

1 reference

12 December 2020

A mechanism for the HLA-A*01-associated risk for EBV+ Hodgkin lymphoma and infectious mononucleosis

1 reference

12 December 2020

A synonymous mutation in TCOF1 causes Treacher Collins syndrome due to mis-splicing of a constitutive exon

1 reference

12 December 2020

Recombination: a means to an end in human cells

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002280

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1371/JOURNAL.PGEN.1002280

1 reference

353696

353696

1 reference

1 reference

1 reference