Achieving high-sensitivity for clinical applications using augmented exome sequencing (Q22000581)

26 August 2022

22

Carlos Bustamante

Carlos

Bustamante

1 reference

26 August 2022

23

Atul J Butte

Atul J.

Butte

1 reference

26 August 2022

5

Deanna M Church

Deanna M.

Church

1 reference

26 August 2022

20

Michael Snyder

Michael

Snyder

1 reference

26 August 2022

9

Justin

Zook

Justin Zook

1 reference

26 August 2022

10

Marc

Salit

Marc Salit

1 reference

26 August 2022

25

Richard

Chen

Richard Chen

1 reference

26 August 2022

Anil Patwardhan

1

Anil

Patwardhan

1 reference

26 August 2022

Jason Harris

2

Jason

Harris

1 reference

26 August 2022

Nan Leng

3

Nan

Leng

1 reference

26 August 2022

Gabor Bartha

4

Gabor

Bartha

1 reference

26 August 2022

Shujun Luo

6

Shujun

Luo

1 reference

26 August 2022

Christian Haudenschild

7

Christian

Haudenschild

1 reference

26 August 2022

Mark Pratt

8

Mark

Pratt

1 reference

26 August 2022

Jeanie Tirch

11

Jeanie

Tirch

1 reference

26 August 2022

Massimo Morra

12

Massimo

Morra

1 reference

26 August 2022

Stephen Chervitz

13

Stephen

Chervitz

1 reference

26 August 2022

Ming Li

14

Ming

Li

1 reference

26 August 2022

Michael Clark

15

Michael

Clark

1 reference

26 August 2022

Sarah Garcia

16

Sarah

Garcia

1 reference

26 August 2022

Gemma Chandratillake

17

Gemma

Chandratillake

1 reference

26 August 2022

Scott Kirk

18

Scott

Kirk

1 reference

26 August 2022

Euan Ashley

19

Euan

Ashley

1 reference

26 August 2022

John West

24

John

West

1 reference

Pharmacogenomics knowledge for personalized medicine

26 August 2022

language of work or name

English

0 references

publication date

2015

0 references

published in

Genome Medicine

0 references

volume

7

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issue

1

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page(s)

71

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cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4534066

Clinical application of exome sequencing in undiagnosed genetic conditions

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4534066

A mosaic activating mutation in AKT1 associated with the Proteus syndrome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4534066

Modernizing reference genome assemblies

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4534066

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=4534066

The Catalogue of Somatic Mutations in Cancer (COSMIC)

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4534066

Genome sequencing and cancer

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4534066

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=4534066

ACMG recommendations for reporting of incidental findings in clinical exome and 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=4534066

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4534066

Reducing INDEL calling errors in whole genome and exome sequencing data

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4534066

Somatic mutations in cerebral cortical malformations

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4534066

Accurate de novo and transmitted indel detection in exome-capture data using microassembly

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4534066

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4534066

Variant detection sensitivity and biases in whole genome and exome 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=4534066

Joint variant and de novo mutation identification on pedigrees from high-throughput 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=4534066

Exome sequencing helped the fine diagnosis of two siblings afflicted with atypical Timothy syndrome (TS2).

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4534066

Analytical validation of whole exome and whole genome sequencing for clinical applications

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4534066

Comparison of somatic mutation calling methods in amplicon and whole exome sequence 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=4534066

Clinical interpretation and implications of whole-genome 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=4534066

Integrating human sequence data sets provides a resource of benchmark SNP and indel genotype calls

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4534066

Brief Report: whole-exome sequencing revealing somatic NLRP3 mosaicism in a patient with chronic infantile neurologic, cutaneous, articular syndrome.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4534066

EXCAVATOR: detecting copy number variants from whole-exome 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=4534066

Clinical whole-exome sequencing for the diagnosis of mendelian 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=4534066

The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized 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=4534066

ACMG clinical laboratory standards for 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=4534066

Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4534066

Quantifying single nucleotide variant detection sensitivity in exome 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=4534066

A dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgrounds

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4534066

The NIH genetic testing registry: a new, centralized database of genetic tests to enable access to comprehensive information and improve transparency

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4534066

Exome analysis of two limb-girdle muscular dystrophy families: mutations identified and challenges encountered

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4534066

Assuring the quality of next-generation sequencing in clinical laboratory practice

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4534066

Discovery and statistical genotyping of copy-number variation from whole-exome sequencing depth

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4534066

Copy number variation detection and genotyping from exome sequence 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=4534066

The National Institutes of Health Undiagnosed Diseases Program: insights into rare 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=4534066

Evaluation of a transposase protocol for rapid generation of shotgun high-throughput sequencing libraries from nanogram quantities of DNA

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4534066

Targeted enrichment beyond the consensus coding DNA sequence exome reveals exons with higher variant densities

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4534066

Mutations in CEP57 cause mosaic variegated aneuploidy syndrome.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4534066

A new face and new challenges for Online Mendelian Inheritance in Man (OMIM®).

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4534066

Structural variation in the human genome and its role in 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=4534066

Clinical exome performance for reporting secondary genetic findings

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4534066

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4534066

College of American Pathologists' laboratory standards for next-generation sequencing clinical tests

30 May 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13073-015-0197-4

Development and validation of a clinical cancer genomic profiling test based on massively parallel DNA sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13073-015-0197-4

THE USE OF CONFIDENCE OR FIDUCIAL LIMITS ILLUSTRATED IN THE CASE OF THE BINOMIAL

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13073-015-0197-4

Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13073-015-0197-4

A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13073-015-0197-4

10.1186/S13073-015-0197-4

21 January 2018

Identifiers

DOI

1 reference

0 references

1 reference

1 reference

PubMed publication ID

26269718

1 reference