4.7 Review

Sequencing studies in human genetics: design and interpretation

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Article Biochemistry & Molecular Biology

Genotype calling and haplotyping in parent-offspring trios

Wei Chen et al.

GENOME RESEARCH (2013)

Review Genetics & Heredity

Genotype to phenotype: lessons from model organisms for human genetics

Ben Lehner

NATURE REVIEWS GENETICS (2013)

Article Clinical Neurology

Multiple molecular mechanisms for a single GABAA mutation in epilepsy

Christopher A. Reid et al.

NEUROLOGY (2013)

Article Genetics & Heredity

Using ERDS to Infer Copy-Number Variants in High-Coverage Genomes

Mingfu Zhu et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2012)

Article Genetics & Heredity

Clinical application of exome sequencing in undiagnosed genetic conditions

Anna C. Need et al.

JOURNAL OF MEDICAL GENETICS (2012)

Article Cardiac & Cardiovascular Systems

In Silico Cardiac Risk Assessment in Patients With Long QT Syndrome Type 1: Clinical Predictability of Cardiac Models

Ryan Hoefen et al.

JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2012)

Article Multidisciplinary Sciences

Patterns and rates of exonic de novo mutations in autism spectrum disorders

Benjamin M. Neale et al.

NATURE (2012)

Article Multidisciplinary Sciences

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

Stephan J. Sanders et al.

NATURE (2012)

Article Multidisciplinary Sciences

An integrated encyclopedia of DNA elements in the human genome

Ian Dunham et al.

NATURE (2012)

Article Genetics & Heredity

De novo mutations in ATP1A3 cause alternating hemiplegia of childhood

Erin L. Heinzen et al.

NATURE GENETICS (2012)

Article Genetics & Heredity

Exome sequencing and the genetic basis of complex traits

Adam Kiezun et al.

NATURE GENETICS (2012)

Article Neurosciences

De Novo Gene Disruptions in Children on the Autistic Spectrum

Ivan Iossifov et al.

NEURON (2012)

Article Medicine, General & Internal

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

Joep de Ligt et al.

NEW ENGLAND JOURNAL OF MEDICINE (2012)

Article Biochemistry & Molecular Biology

SIFT web server: predicting effects of amino acid substitutions on proteins

Ngak-Leng Sim et al.

NUCLEIC ACIDS RESEARCH (2012)

Article Multidisciplinary Sciences

Epistatic interactions between Tgfb1 and genetic loci, Tgfbm2 and Tgfbm3, determine susceptibility to an asthmatic stimulus

Julia Freimuth et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2012)

Article Multidisciplinary Sciences

Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes

Jacob A. Tennessen et al.

SCIENCE (2012)

Article Cell Biology

Rapid Whole-Genome Sequencing for Genetic Disease Diagnosis in Neonatal Intensive Care Units

Carol Jean Saunders et al.

SCIENCE TRANSLATIONAL MEDICINE (2012)

Article Genetics & Heredity

A Genome-wide Comparison of the Functional Properties of Rare and Common Genetic Variants in Humans

Qianqian Zhu et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2011)

Article Genetics & Heredity

A General Framework for Detecting Disease Associations with Rare Variants in Sequencing Studies

Dan-Yu Lin et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2011)

Article Genetics & Heredity

Rare-Variant Association Testing for Sequencing Data with the Sequence Kernel Association Test

Michael C. Wu et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2011)

Article Biochemical Research Methods

SVA: software for annotating and visualizing sequenced human genomes

Dongliang Ge et al.

BIOINFORMATICS (2011)

Article Biochemical Research Methods

Improving SNP discovery by base alignment quality

Heng Li

BIOINFORMATICS (2011)

Article Biochemical Research Methods

The variant call format and VCFtools

Petr Danecek et al.

BIOINFORMATICS (2011)

Article Genetics & Heredity

Comparison of Statistical Tests for Disease Association With Rare Variants

Saonli Basu et al.

GENETIC EPIDEMIOLOGY (2011)

Article Biochemistry & Molecular Biology

Stampy: A statistical algorithm for sensitive and fast mapping of Illumina sequence reads

Gerton Lunter et al.

GENOME RESEARCH (2011)

Article Biochemistry & Molecular Biology

Accurate and comprehensive sequencing of personal genomes

Subramanian S. Ajay et al.

GENOME RESEARCH (2011)

Article Genetics & Heredity

Variation in genome-wide mutation rates within and between human families

Donald F. Conrad et al.

NATURE GENETICS (2011)

Article Genetics & Heredity

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

Mark A. DePristo et al.

NATURE GENETICS (2011)

Review Biochemistry & Molecular Biology

Diseases in a dish: modeling human genetic disorders using induced pluripotent cells

Gustavo Tiscornia et al.

NATURE MEDICINE (2011)

Review Genetics & Heredity

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

Gregory M. Cooper et al.

NATURE REVIEWS GENETICS (2011)

Review Genetics & Heredity

Exome sequencing as a tool for Mendelian disease gene discovery

Michael J. Bamshad et al.

NATURE REVIEWS GENETICS (2011)

Review Genetics & Heredity

Genotype and SNP calling from next-generation sequencing data

Rasmus Nielsen et al.

NATURE REVIEWS GENETICS (2011)

Article Cell Biology

Carrier Testing for Severe Childhood Recessive Diseases by Next-Generation Sequencing

Callum J. Bell et al.

SCIENCE TRANSLATIONAL MEDICINE (2011)

Article Genetics & Heredity

Testing for an Unusual Distribution of Rare Variants

Benjamin M. Neale et al.

PLOS GENETICS (2011)

Review Biotechnology & Applied Microbiology

Computational and statistical approaches to analyzing variants identified by exome sequencing

Nathan O. Stitziel et al.

GENOME BIOLOGY (2011)

Article Genetics & Heredity

Pooled Association Tests for Rare Variants in Exon-Resequencing Studies

Alkes L. Price et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2010)

Review Biochemistry & Molecular Biology

Human allelic variation: perspective from protein function, structure, and evolution

Daniel M. Jordan et al.

CURRENT OPINION IN STRUCTURAL BIOLOGY (2010)

Article Biochemistry & Molecular Biology

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

Aaron McKenna et al.

GENOME RESEARCH (2010)

Article Biochemistry & Molecular Biology

Analysis of next-generation genomic data in cancer: accomplishments and challenges

Li Ding et al.

HUMAN MOLECULAR GENETICS (2010)

Article Multidisciplinary Sciences

A map of human genome variation from population-scale sequencing

David Altshuler et al.

NATURE (2010)

Letter Biochemical Research Methods

mrsFAST: a cache-oblivious algorithm for short-read mapping

Faraz Hach et al.

NATURE METHODS (2010)

Letter Biochemical Research Methods

A method and server for predicting damaging missense mutations

Ivan A. Adzhubei et al.

NATURE METHODS (2010)

Letter Biochemical Research Methods

MutationTaster evaluates disease-causing potential of sequence alterations

Jana Marie Schwarz et al.

NATURE METHODS (2010)

Review Genetics & Heredity

Statistical analysis strategies for association studies involving rare variants

Vikas Bansal et al.

NATURE REVIEWS GENETICS (2010)

Review Genetics & Heredity

Advances in understanding cancer genomes through second-generation sequencing

Matthew Meyerson et al.

NATURE REVIEWS GENETICS (2010)

Review Genetics & Heredity

Uncovering the roles of rare variants in common disease through whole-genome sequencing

Elizabeth T. Cirulli et al.

NATURE REVIEWS GENETICS (2010)

Article Biochemical Research Methods

Identifying a High Fraction of the Human Genome to be under Selective Constraint Using GERP plus

Eugene V. Davydov et al.

PLOS COMPUTATIONAL BIOLOGY (2010)

Article Biotechnology & Applied Microbiology

The theory of discovering rare variants via DNA sequencing

Michael C. Wendl et al.

BMC GENOMICS (2009)

Review Biochemical Research Methods

Sense from sequence reads: methods for alignment and assembly

Paul Flicek et al.

NATURE METHODS (2009)

Article Multidisciplinary Sciences

Potential etiologic and functional implications of genome-wide association loci for human diseases and traits

Lucia A. Hindorff et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2009)

Article Genetics & Heredity

A Groupwise Association Test for Rare Mutations Using a Weighted Sum Statistic

Bo Eskerod Madsen et al.

PLOS GENETICS (2009)

Article Genetics & Heredity

A Genome-Wide Investigation of SNPs and CNVs in Schizophrenia

Anna C. Need et al.

PLOS GENETICS (2009)

Article Genetics & Heredity

Methods for detecting associations with rare variants for common diseases: Application to analysis of sequence data

Bingshan Li et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2008)

Article Genetics & Heredity

Genome-wide significance for dense SNP and resequencing data

Clive J. Hoggart et al.

GENETIC EPIDEMIOLOGY (2008)

Review Biotechnology & Applied Microbiology

Next-generation DNA sequencing

Jay Shendure et al.

NATURE BIOTECHNOLOGY (2008)

Review Genetics & Heredity

Genome-wide association studies for complex traits: consensus, uncertainty and challenges

Mark I. McCarthy et al.

NATURE REVIEWS GENETICS (2008)

Article Multidisciplinary Sciences

Widely distributed noncoding purifying selection in the human genome

Saurabh Asthana et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2007)

Article Biotechnology & Applied Microbiology

A strategy to discover genes that carry multi-allelic or mono-allelic risk for common diseases: A cohort allelic sums test (CAST)

Stephan Morgenthaler et al.

MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS (2007)

Article Biotechnology & Applied Microbiology

Opinion - How many drug targets are there?

John P. Overington et al.

NATURE REVIEWS DRUG DISCOVERY (2006)

Review Multidisciplinary Sciences

From in vivo to in silico biology and back

Barbara Di Ventura et al.

NATURE (2006)

Review Multidisciplinary Sciences

From molecule to malady

FM Ashcroft

NATURE (2006)

Article Multidisciplinary Sciences

Natural selection on protein-coding genes in the human genome

CD Bustamante et al.

NATURE (2005)

Review Biochemistry & Molecular Biology

Schizophrenia genes, gene expression, and neuropathology: on the matter of their convergence

PJ Harrison et al.

MOLECULAR PSYCHIATRY (2005)

Article Genetics & Heredity

Human gene mutation database (HGMD®):: 2003 update

PD Stenson et al.

HUMAN MUTATION (2003)