(Q37570448)

21 August 2017

Next-generation carrier screening (English)

1 reference

21 August 2017

Valerie Greger

7

0 references

George M. Church

object named as

George M Church

13

0 references

author name string

Mark A Umbarger

1

1 reference

21 August 2017

Caleb J Kennedy

2

1 reference

21 August 2017

Patrick Saunders

3

1 reference

21 August 2017

Benjamin Breton

4

1 reference

21 August 2017

Niru Chennagiri

5

1 reference

21 August 2017

John Emhoff

6

1 reference

21 August 2017

Stephanie Hallam

8

1 reference

21 August 2017

David Maganzini

9

1 reference

21 August 2017

Cynthia Micale

10

1 reference

21 August 2017

Marcia M Nizzari

11

1 reference

21 August 2017

Charles F Towne

12

1 reference

21 August 2017

Gregory J Porreca

14

1 reference

21 August 2017

language of work or name

English

0 references

publication date

13 June 2013

1 reference

21 August 2017

1 reference

21 August 2017

16

1 reference

21 August 2017

2

1 reference

21 August 2017

132-140

1 reference

https://scigraph.springernature.com/pub.10.1038/gim.2013.83

21 August 2017

0 references

cites work

An integrated semiconductor device enabling non-optical genome sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3918543

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3918543

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3918543

A novel custom resequencing array for dilated cardiomyopathy

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3918543

Microindel detection in short-read sequence data

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3918543

Target-enrichment strategies for next-generation sequencing

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3918543

Fast and accurate long-read alignment with Burrows-Wheeler transform

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3918543

Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3918543

ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3918543

Fast and accurate short read alignment with Burrows-Wheeler transform

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3918543

Massively parallel exon capture and library-free resequencing across 16 genomes

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3918543

Accurate whole human genome sequencing using reversible terminator chemistry

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3918543

Core signaling pathways in human pancreatic cancers revealed by global genomic analyses

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3918543

Sphingomyelin phosphodiesterase-1 (SMPD1) coding variants do not contribute to low levels of high-density lipoprotein cholesterol

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3918543

Multiplex amplification of large sets of human exons

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3918543

Linkage disequilibrium and heritability of copy-number polymorphisms within duplicated regions of the human genome

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3918543

Opportunities and challenges associated with clinical diagnostic genome sequencing: a report of the Association for Molecular Pathology.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3918543

ACOG Committee Opinion No. 486: Update on carrier screening for cystic fibrosis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3918543

Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations. The Biomed CF Mutation Analysis Consortium

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3918543

Evaluation of second-generation sequencing of 19 dilated cardiomyopathy genes for clinical applications

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3918543

Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3918543

ACOG Committee Opinion No. 469: Carrier screening for fragile X syndrome.

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3918543

ACOG committee opinion No. 432: spinal muscular atrophy.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3918543

Primer-site SNPs mask mutations.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3918543

Assembling millions of short DNA sequences using SSAKE.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3918543

A novel polymorphism in the human acid sphingomyelinase gene due to size variation of the signal peptide region

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3918543

Carrier frequency of the Bloom syndrome blmAsh mutation in the Ashkenazi Jewish population

1 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23765052

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/GIM.2013.83

1 reference

21 August 2017

1 reference

21 August 2017

1 reference