(Q36048523)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22674554%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

title

Noninvasive whole-genome sequencing of a human fetus (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22674554%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

main subject

whole genome sequencing

1 reference

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22674554%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Jay Shendure

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22674554%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Jacob O Kitzman

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22674554%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Donna A. Santillan

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22674554%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

13

Evan E Eichler

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22674554%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

12

Michael J Bamshad

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22674554%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

7

Hilary S Gammill

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22674554%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

5

Ruolan Qiu

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22674554%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

8

Craig E Rubens

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22674554%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

10

Jeffrey C Murray

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22674554%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

11

Holly K Tabor

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22674554%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

author name string

Matthew W Snyder

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22674554%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Alexandra P Lewis

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22674554%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Lavone E Simmons

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22674554%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

language of work or name

English

0 references

publication date

1 June 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22674554%20AND%20SRC:MED&resulttype=core&format=json

Science Translational Medicine

3 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22674554%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

volume

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22674554%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

issue

137

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22674554%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

page(s)

137ra76

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22674554%20AND%20SRC:MED&resulttype=core&format=json

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

3 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3379884

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3379884

Accurate and comprehensive sequencing of personal genomes

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3379884

Variation in genome-wide mutation rates within and between human families

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3379884

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3379884

Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3379884

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3379884

Whole-genome molecular haplotyping of single cells

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3379884

Haplotype-resolved genome sequencing of a Gujarati Indian individual.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3379884

Completely phased genome sequencing through chromosome sorting

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3379884

Rapid, low-input, low-bias construction of shotgun fragment libraries by high-density in vitro transposition

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3379884

Diversity of human copy number variation and multicopy genes

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3379884

A map of human genome variation from population-scale sequencing

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3379884

Quantification of Fetal DNA by Use of Methylation-Based DNA Discrimination

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3379884

Direct determination of molecular haplotypes by chromosome microdissection.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3379884

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3379884

Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3379884

McKusick's Online Mendelian Inheritance in Man (OMIM)

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3379884

Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3379884

Prenatal diagnosis: progress through plasma nucleic acids

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3379884

Rapid clearance of fetal DNA from maternal plasma

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3379884

Quantitative analysis of fetal DNA in maternal plasma and serum: implications for noninvasive prenatal diagnosis.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3379884

The Human Gene Mutation Database: providing a comprehensive central mutation database for molecular diagnostics and personalized genomics

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3379884

HapCUT: an efficient and accurate algorithm for the haplotype assembly problem

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3379884

Maternal Plasma DNA Sequencing Reveals the Genome-Wide Genetic and Mutational Profile of the Fetus

23 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.3004323

10.1126/SCITRANSLMED.3004323

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22674554%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22674554%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

PubMed publication ID

22674554

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22674554%20AND%20SRC:MED&resulttype=core&format=json