List of works - Jay Shendure

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

scientific article (publication date: March 2014)

Targeted capture and massively parallel sequencing of 12 human exomes

scientific article

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

scientific article (publication date: 4 April 2012)

Exome sequencing identifies the cause of a mendelian disorder

scientific article

Exome sequencing as a tool for Mendelian disease gene discovery

scientific article (publication date: 27 September 2011)

The contribution of de novo coding mutations to autism spectrum disorder

scientific article

A high-coverage genome sequence from an archaic Denisovan individual

scientific article

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

scientific article (publication date: June 2011)

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

scientific article

Guidelines for investigating causality of sequence variants in human disease

scientific article

Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders

scientific article

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

scientific article

The complete genome sequence of a Neanderthal from the Altai Mountains

scientific article

Accurate multiplex polony sequencing of an evolved bacterial genome

scientific article

Target-enrichment strategies for next-generation sequencing

scientific article

A three-dimensional model of the yeast genome

scientific article published on 2 May 2010

Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants

scientific article published on 28 November 2012

Integrative genome analyses identify key somatic driver mutations of small-cell lung cancer

scientific article

Diversity of human copy number variation and multicopy genes

scientific article

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

scientific article

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

scientific article

Assemblathon 2: evaluating de novo methods of genome assembly in three vertebrate species

scientific article

Multiplex single cell profiling of chromatin accessibility by combinatorial cellular indexing

scientific article published on 7 May 2015

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

scientific article

Massively parallel functional dissection of mammalian enhancers in vivo

scientific article

Genome evolution in the allotetraploid frog Xenopus laevis

scientific article

Disruptive CHD8 mutations define a subtype of autism early in development

scientific article

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

scientific article

Chromosome-scale scaffolding of de novo genome assemblies based on chromatin interactions

scientific article

Cell-free DNA Comprises an In Vivo Nucleosome Footprint that Informs Its Tissues-Of-Origin

scientific article published on January 14, 2016

Refining analyses of copy number variation identifies specific genes associated with developmental delay

scientific article

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

scientific article

Multiplex amplification of large sets of human exons

scientific article

Advanced sequencing technologies: methods and goals

scientific article

Global survey of escape from X inactivation by RNA-sequencing in mouse

scientific article

Substantial interindividual and limited intraindividual genomic diversity among tumors from men with metastatic prostate cancer

scientific article published on February 29, 2016

CADD: predicting the deleteriousness of variants throughout the human genome

A de novo convergence of autism genetics and molecular neuroscience

scientific article

Comprehensive single-cell transcriptional profiling of a multicellular organism.

scientific article

Transcriptome-wide miR-155 binding map reveals widespread noncanonical microRNA targeting

scientific article

The beginning of the end for microarrays?

scientific article

Whole-organism lineage tracing by combinatorial and cumulative genome editing

scientific article

The million mutation project: a new approach to genetics in Caenorhabditis elegans

scientific article

Decoding long nanopore sequencing reads of natural DNA

scientific article

The haplotype-resolved genome and epigenome of the aneuploid HeLa cancer cell line

scientific article

Noninvasive whole-genome sequencing of a human fetus.

scientific article

GRIN2A mutations cause epilepsy-aphasia spectrum disorders

scientific article published on 11 August 2013

Single molecule molecular inversion probes for targeted, high-accuracy detection of low-frequency variation

scientific article published on 4 February 2013

Classification and characterization of microsatellite instability across 18 cancer types

scientific article

Exome sequencing identifies a spectrum of mutation frequencies in advanced and lethal prostate cancers

scientific article

List of works by Jay Shendure

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

Targeted capture and massively parallel sequencing of 12 human exomes

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

Exome sequencing identifies the cause of a mendelian disorder

Exome sequencing as a tool for Mendelian disease gene discovery

The contribution of de novo coding mutations to autism spectrum disorder

A high-coverage genome sequence from an archaic Denisovan individual

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

Guidelines for investigating causality of sequence variants in human disease

Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders

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

The complete genome sequence of a Neanderthal from the Altai Mountains

Accurate multiplex polony sequencing of an evolved bacterial genome

Target-enrichment strategies for next-generation sequencing

A three-dimensional model of the yeast genome

Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants

Integrative genome analyses identify key somatic driver mutations of small-cell lung cancer

Diversity of human copy number variation and multicopy genes

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

Assemblathon 2: evaluating de novo methods of genome assembly in three vertebrate species

Multiplex single cell profiling of chromatin accessibility by combinatorial cellular indexing

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

Massively parallel functional dissection of mammalian enhancers in vivo

Genome evolution in the allotetraploid frog Xenopus laevis

Disruptive CHD8 mutations define a subtype of autism early in development

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

Chromosome-scale scaffolding of de novo genome assemblies based on chromatin interactions

Cell-free DNA Comprises an In Vivo Nucleosome Footprint that Informs Its Tissues-Of-Origin

Refining analyses of copy number variation identifies specific genes associated with developmental delay

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

Multiplex amplification of large sets of human exons

Advanced sequencing technologies: methods and goals

Global survey of escape from X inactivation by RNA-sequencing in mouse

Substantial interindividual and limited intraindividual genomic diversity among tumors from men with metastatic prostate cancer

CADD: predicting the deleteriousness of variants throughout the human genome

A de novo convergence of autism genetics and molecular neuroscience

Comprehensive single-cell transcriptional profiling of a multicellular organism.

Transcriptome-wide miR-155 binding map reveals widespread noncanonical microRNA targeting

The beginning of the end for microarrays?

Whole-organism lineage tracing by combinatorial and cumulative genome editing

The million mutation project: a new approach to genetics in Caenorhabditis elegans

Decoding long nanopore sequencing reads of natural DNA

The haplotype-resolved genome and epigenome of the aneuploid HeLa cancer cell line

Noninvasive whole-genome sequencing of a human fetus.

GRIN2A mutations cause epilepsy-aphasia spectrum disorders

Single molecule molecular inversion probes for targeted, high-accuracy detection of low-frequency variation

Classification and characterization of microsatellite instability across 18 cancer types

Exome sequencing identifies a spectrum of mutation frequencies in advanced and lethal prostate cancers