Human genomics. Effect of predicted protein-truncating genetic variants on the human transcriptome (Q35958578)

11 August 2017

Human genomics. Effect of predicted protein-truncating genetic variants on the human transcriptome (English)

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11 August 2017

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Kristin Ardlie

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Rui Zhang

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Konrad J. Karczewski

Konrad J Karczewski

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Tuuli Lappalainen

Tuuli Lappalainen

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Pedro G. Ferreira

Pedro G Ferreira

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Douglas M. Ruderfer

Douglas M Ruderfer

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Matti Pirinen

Matti Pirinen

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Michael Sammeth

Michael Sammeth

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Mark McCarthy

Mark I McCarthy

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Roderic Guigó i Serra

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Roderic Guigo

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Eric V Minikel

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Mark J Daly

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Peter Donnelly

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Carlos D Bustamante

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Stephen B Montgomery

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Daniel G. MacArthur

Daniel G MacArthur

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Ryan Poplin

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Ryan Poplin

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11 August 2017

Manuel A Rivas

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11 August 2017

Donald F Conrad

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Monkol Lek

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Emily K Tsang

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Julian B Maller

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Kimberly R Kukurba

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David S DeLuca

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Menachem Fromer

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Kevin S Smith

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Fengmei Zhao

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Eric Banks

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Shaun M Purcell

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11 August 2017

Taru Tukiainen

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Peter D Stenson

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Katharine H Huang

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11 August 2017

Timothy J Sullivan

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11 August 2017

Jared Nedzel

25

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11 August 2017

GTEx Consortium

26

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11 August 2017

Geuvadis Consortium

27

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11 August 2017

Jin Billy Li

29

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11 August 2017

Emmanouil T Dermitzakis

35

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11 August 2017

language of work or name

English

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publication date

1 May 2015

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11 August 2017

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348

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666-669

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6235

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Choice of transcripts and software has a large effect on variant annotation

11 August 2017

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4537935

Allelic expression of deleterious protein-coding variants across human tissues

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4537935

Quantifying RNA allelic ratios by microfluidic multiplex PCR and 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=4537935

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4537935

Transcriptome and genome sequencing uncovers functional variation in humans

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4537935

Sources of bias in measures of allele-specific expression derived from RNA-sequence data aligned to a single reference genome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4537935

The Genotype-Tissue Expression (GTEx) project

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4537935

The origin, evolution, and functional impact of short insertion-deletion variants identified in 179 human 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=4537935

An integrated map of genetic variation from 1,092 human 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=4537935

A systematic survey of loss-of-function variants in human protein-coding 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=4537935

Copy-number variation: the balance between gene dosage and expression in Drosophila melanogaster.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4537935

A powerful and flexible statistical framework for testing hypotheses of allele-specific gene expression from RNA-seq 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=4537935

Genome-wide association between branch point properties and alternative splicing

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4537935

Characterising and predicting haploinsufficiency in the human genome.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4537935

Widespread transcriptional autosomal dosage compensation in Drosophila correlates with gene expression level

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4537935

Sequence variations in PCSK9, low LDL, and protection against coronary heart disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4537935

Nonsense-mediated decay approaches the clinic

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4537935

Pre-mRNA splicing and human disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4537935

A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4537935

The molecular basis of dominance.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4537935

Reproducibility of high-throughput mRNA and small RNA sequencing across laboratories

2 October 2017

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https://api.crossref.org/works/10.1126%2FSCIENCE.1261877

Assessing allele-specific expression across multiple tissues from RNA-seq read data

21 January 2018

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https://api.crossref.org/works/10.1126%2FSCIENCE.1261877

RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease

21 January 2018

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https://api.crossref.org/works/10.1126%2FSCIENCE.1261877

A polygenic burden of rare disruptive mutations in schizophrenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1261877

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1261877

Fast and accurate short read alignment with Burrows-Wheeler transform

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1261877

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1261877

The variant call format and VCFtools

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1261877

A robust statistical method for case-control association testing with copy number variation

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1261877

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1261877

Origins and functional impact of copy number variation in the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1261877

The GEM mapper: fast, accurate and versatile alignment by filtration

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1261877

Using probabilistic estimation of expression residuals (PEER) to obtain increased power and interpretability of gene expression analyses

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1261877

Loss-of-function mutations in SLC30A8 protect against type 2 diabetes

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1261877

Long-range polony haplotyping of individual human chromosome molecules

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1261877

STAR: ultrafast universal RNA-seq aligner

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1261877

TopHat: discovering splice junctions with RNA-Seq

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1261877

Probable Inference, the Law of Succession, and Statistical Inference

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1261877

A general framework for estimating the relative pathogenicity of human genetic variants

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1261877

pROC: an open-source package for R and S+ to analyze and compare ROC curves

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1261877

Identification and characterization of novel factors that act in the nonsense-mediated mRNA decay pathway in nematodes, flies and mammals.

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1261877

Copy number variants, diseases and gene expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1261877

Segmental copy number variation shapes tissue transcriptomes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1261877

Relating CNVs to transcriptome data at fine resolution: assessment of the effect of variant size, type, and overlap with functional regions

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1261877

ClinVar: public archive of relationships among sequence variation and human phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1261877

Genetic and biochemical evidence that CESD and Wolman disease are distinguished by residual lysosomal acid lipase activity.

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1261877

Tissue-specific RNA surveillance? Nonsense-mediated mRNA decay causes collagen X haploinsufficiency in Schmid metaphyseal chondrodysplasia cartilage

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25954003

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1126/SCIENCE.1261877

1 reference

11 August 2017

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11 August 2017

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