Detecting false-positive signals in exome sequencing (Q35828069)

10 August 2017

Detecting false-positive signals in exome sequencing (English)

1 reference

NISC Comparative Sequencing Program

10 August 2017

David Adams

2

0 references

3

object named as

NISC Comparative Sequencing Program

1 reference

10 August 2017

4

Christopher E Mason

1 reference

10 August 2017

Karin V Fuentes Fajardo

1

1 reference

10 August 2017

Murat Sincan

5

1 reference

10 August 2017

Cynthia Tifft

6

1 reference

10 August 2017

Camilo Toro

7

1 reference

10 August 2017

Cornelius F Boerkoel

8

1 reference

10 August 2017

William Gahl

9

1 reference

10 August 2017

Thomas Markello

10

1 reference

10 August 2017

5 March 2012

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10 August 2017

1 reference

10 August 2017

33

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10 August 2017

4

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10 August 2017

609-613

1 reference

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

10 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3302978

VarSifter: visualizing and analyzing exome-scale sequence variation data on a desktop computer

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3302978

Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3302978

Exon capture analysis of G protein-coupled receptors identifies activating mutations in GRM3 in melanoma.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3302978

Predisposition to cancer caused by genetic and functional defects of mammalian Atad5

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3302978

Accurate and comprehensive sequencing of personal genomes

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3302978

Modernizing reference genome assemblies

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3302978

Exome sequencing identifies GRIN2A as frequently mutated in melanoma

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3302978

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3302978

The GENCODE exome: sequencing the complete human exome

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3302978

Analyzing and minimizing PCR amplification bias in Illumina sequencing libraries

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3302978

Facioscapulohumeral muscular dystrophy and DUX4: breaking the silence

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3302978

Base-calling for next-generation sequencing platforms

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3302978

Gene inactivation and its implications for annotation in the era of personal genomics

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3302978

Improved variant discovery through local re-alignment of short-read next-generation sequencing data using SRMA

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3302978

Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3302978

Systematic comparison of three genomic enrichment methods for massively parallel DNA sequencing

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3302978

Galaxy: a comprehensive approach for supporting accessible, reproducible, and transparent computational research in the life sciences

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3302978

Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3302978

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3302978

Challenges of sequencing human genomes

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3302978

Assembly of large genomes using second-generation sequencing

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3302978

The number of markers in the HapMap project: some notes on chi-square and exact tests for Hardy-Weinberg equilibrium

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3302978

Massively parallel sequencing of exons on the X chromosome identifies RBM10 as the gene that causes a syndromic form of cleft palate

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3302978

A method and server for predicting damaging missense mutations

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3302978

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3302978

Personal genome sequencing: current approaches and challenges

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3302978

Galaxy: a web-based genome analysis tool for experimentalists

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3302978

Building the sequence map of the human pan-genome

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3302978

Exome sequencing identifies the cause of a mendelian disorder

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3302978

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3302978

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3302978

Exact tests for Hardy-Weinberg proportions

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3302978

The ClinSeq Project: piloting large-scale genome sequencing for research in genomic medicine

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3302978

Fast and accurate short read alignment with Burrows-Wheeler transform

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3302978

Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3302978

Accurate whole human genome sequencing using reversible terminator chemistry

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3302978

Substantial biases in ultra-short read data sets from high-throughput DNA sequencing

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3302978

A note on exact tests of Hardy-Weinberg equilibrium

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3302978

SIFT: Predicting amino acid changes that affect protein function

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3302978

Initial sequencing and analysis of the human genome

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3302978

SNP uniqueness problem: a proof-of-principle in HapMap SNPs

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3302978

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3302978

Human Gene Mutation Database (HGMD): 2003 update

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3302978

Heads or tails: a simple reliability check for multiple sequence alignments

24 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22294350

12 December 2020

inferred from PubMed ID database lookup

The NIH Undiagnosed Diseases Program: lessons learned

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22294350

12 December 2020

inferred from PubMed ID database lookup

Identification and correction of systematic error in high-throughput sequence data

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FHUMU.22033

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1002/HUMU.22033

1 reference

release_3l66ilzyxffmxhyidrjf3xqngm

10 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/3l66ilzyxffmxhyidrjf3xqngm

24 November 2022

mapped directly with Wikidata item

1 reference

10 August 2017

PubMed publication ID

22294350

1 reference