DNA sequencing

DNA sequencing is any chemical, enzymatic or technological procedure for determining the linear order of nucleotide bases in DNA. Sanger sequencing by replicative synthesis in the presence of dideoxy nucleotide chain terminator monomers has now given way to 'next generation' sequencing by short parallel read technologies. The term often applies to the entire sequence determination pipeline including post-sequencing software analysis.

Latest Research and Reviews

  • Research
    | Open Access

    • Tori C. Bootpetch
    • , Lena Hafrén
    • , Christina L. Elling
    • , Erin E. Baschal
    • , Ani W. Manichaikul
    • , Harold S. Pine
    • , Wasyl Szeremeta
    • , Melissa A. Scholes
    • , Stephen P. Cass
    • , Eric D. Larson
    • , Kenny H. Chan
    • , Rafaqat Ishaq
    • , Jeremy D. Prager
    • , Rehan S. Shaikh
    • , Samuel P. Gubbels
    • , Ayesha Yousaf
    • , Michael J. Bamshad
    • , Deborah A. Nickerson
    • , Suzanne M. Leal
    • , Todd M. Wine
    • , Michael J. Bamshad
    • , Patricia J. Yoon
    • , Herman A. Jenkins
    • , Deborah A. Nickerson
    • , Sven-Olrik Streubel
    • , Norman R. Friedman
    • , Daniel N. Frank
    • , Elisabet Einarsdottir
    • , Juha Kere
    • , Saima Riazuddin
    • , Kathleen A. Daly
    • , Suzanne M. Leal
    • , Allen F. Ryan
    • , Petri S. Mattila
    • , Zubair M. Ahmed
    • , Michele M. Sale
    • , Tasnee Chonmaitree
    •  & Regie Lyn P. Santos-Cortez
    Scientific Reports 10, 15035
  • Research |

    • Sumin Zhao
    • , Wanyang Wang
    • , Yaoshen Wang
    • , Rui Han
    • , Chunna Fan
    • , Peixiang Ni
    • , Fengyu Guo
    • , Fanwei Zeng
    • , Qiaona Yang
    • , Yun Yang
    • , Yan Sun
    • , Xinhua Zhang
    • , Yan Chen
    • , Baosheng Zhu
    • , Wangwei Cai
    • , Shaoke Chen
    • , Ren Cai
    • , Xiaoling Guo
    • , Chonglin Zhang
    • , Yuqiu Zhou
    • , Shuodan Huang
    • , Yanhui Liu
    • , Biyan Chen
    • , Shanhuo Yan
    • , Yajun Chen
    • , Hongmei Ding
    • , Xuan Shang
    • , Xiangmin Xu
    • , Jun Sun
    •  & Zhiyu Peng
  • Research |

    STAAR is a powerful rare variant association test that incorporates variant functional categories and complementary functional annotations using a dynamic weighting scheme based on annotation principal components. STAAR accounts for population structure and relatedness and is scalable for analyzing large whole-genome sequencing studies.

    • Xihao Li
    • , Zilin Li
    • , Hufeng Zhou
    • , Sheila M. Gaynor
    • , Yaowu Liu
    • , Han Chen
    • , Ryan Sun
    • , Rounak Dey
    • , Donna K. Arnett
    • , Stella Aslibekyan
    • , Christie M. Ballantyne
    • , Lawrence F. Bielak
    • , John Blangero
    • , Eric Boerwinkle
    • , Donald W. Bowden
    • , Jai G. Broome
    • , Matthew P. Conomos
    • , Adolfo Correa
    • , L. Adrienne Cupples
    • , Joanne E. Curran
    • , Barry I. Freedman
    • , Xiuqing Guo
    • , George Hindy
    • , Marguerite R. Irvin
    • , Sharon L. R. Kardia
    • , Sekar Kathiresan
    • , Alyna T. Khan
    • , Charles L. Kooperberg
    • , Cathy C. Laurie
    • , X. Shirley Liu
    • , Michael C. Mahaney
    • , Ani W. Manichaikul
    • , Lisa W. Martin
    • , Rasika A. Mathias
    • , Stephen T. McGarvey
    • , Braxton D. Mitchell
    • , May E. Montasser
    • , Jill E. Moore
    • , Alanna C. Morrison
    • , Jeffrey R. O’Connell
    • , Nicholette D. Palmer
    • , Akhil Pampana
    • , Juan M. Peralta
    • , Patricia A. Peyser
    • , Bruce M. Psaty
    • , Susan Redline
    • , Kenneth M. Rice
    • , Stephen S. Rich
    • , Jennifer A. Smith
    • , Hemant K. Tiwari
    • , Michael Y. Tsai
    • , Ramachandran S. Vasan
    • , Fei Fei Wang
    • , Daniel E. Weeks
    • , Zhiping Weng
    • , James G. Wilson
    • , Lisa R. Yanek
    • , Namiko Abe
    • , Gonçalo R. Abecasis
    • , Francois Aguet
    • , Christine Albert
    • , Laura Almasy
    • , Alvaro Alonso
    • , Seth Ament
    • , Peter Anderson
    • , Pramod Anugu
    • , Deborah Applebaum-Bowden
    • , Kristin Ardlie
    • , Dan Arking
    • , Donna K. Arnett
    • , Allison Ashley-Koch
    • , Stella Aslibekyan
    • , Tim Assimes
    • , Paul Auer
    • , Dimitrios Avramopoulos
    • , John Barnard
    • , Kathleen Barnes
    • , R. Graham Barr
    • , Emily Barron-Casella
    • , Lucas Barwick
    • , Terri Beaty
    • , Gerald Beck
    • , Diane Becker
    • , Lewis Becker
    • , Rebecca Beer
    • , Amber Beitelshees
    • , Emelia Benjamin
    • , Takis Benos
    • , Marcos Bezerra
    • , Lawrence F. Bielak
    • , Joshua Bis
    • , Thomas Blackwell
    • , John Blangero
    • , Eric Boerwinkle
    • , Donald W. Bowden
    • , Russell Bowler
    • , Jennifer Brody
    • , Ulrich Broeckel
    • , Jai G. Broome
    • , Karen Bunting
    • , Esteban Burchard
    • , Carlos Bustamante
    • , Erin Buth
    • , Brian Cade
    • , Jonathan Cardwell
    • , Vincent Carey
    • , Cara Carty
    • , Richard Casaburi
    • , James Casella
    • , Peter Castaldi
    • , Mark Chaffin
    • , Christy Chang
    • , Yi-Cheng Chang
    • , Daniel Chasman
    • , Sameer Chavan
    • , Bo-Juen Chen
    • , Wei-Min Chen
    • , Yii-Der Ida Chen
    • , Michael Cho
    • , Seung Hoan Choi
    • , Lee-Ming Chuang
    • , Mina Chung
    • , Ren-Hua Chung
    • , Clary Clish
    • , Suzy Comhair
    • , Matthew P. Conomos
    • , Elaine Cornell
    • , Adolfo Correa
    • , Carolyn Crandall
    • , James Crapo
    • , L. Adrienne Cupples
    • , Joanne E. Curran
    • , Jeffrey Curtis
    • , Brian Custer
    • , Coleen Damcott
    • , Dawood Darbar
    • , Sayantan Das
    • , Sean David
    • , Colleen Davis
    • , Michelle Daya
    • , Mariza de Andrade
    • , Lisa de las Fuentes
    • , Michael DeBaun
    • , Ranjan Deka
    • , Dawn DeMeo
    • , Scott Devine
    • , Qing Duan
    • , Ravi Duggirala
    • , Jon Peter Durda
    • , Susan Dutcher
    • , Charles Eaton
    • , Lynette Ekunwe
    • , Adel El Boueiz
    • , Patrick Ellinor
    • , Leslie Emery
    • , Serpil Erzurum
    • , Charles Farber
    • , Tasha Fingerlin
    • , Matthew Flickinger
    • , Myriam Fornage
    • , Nora Franceschini
    • , Chris Frazar
    • , Mao Fu
    • , Stephanie M. Fullerton
    • , Lucinda Fulton
    • , Stacey Gabriel
    • , Weiniu Gan
    • , Shanshan Gao
    • , Yan Gao
    • , Margery Gass
    • , Bruce Gelb
    • , Xiaoqi (Priscilla) Geng
    • , Mark Geraci
    • , Soren Germer
    • , Robert Gerszten
    • , Auyon Ghosh
    • , Richard Gibbs
    • , Chris Gignoux
    • , Mark Gladwin
    • , David Glahn
    • , Stephanie Gogarten
    • , Da-Wei Gong
    • , Harald Goring
    • , Sharon Graw
    • , Daniel Grine
    • , C. Charles Gu
    • , Yue Guan
    • , Xiuqing Guo
    • , Namrata Gupta
    • , Jeff Haessler
    • , Michael Hall
    • , Daniel Harris
    • , Nicola L. Hawley
    • , Jiang He
    • , Susan Heckbert
    • , Ryan Hernandez
    • , David Herrington
    • , Craig Hersh
    • , Bertha Hidalgo
    • , James Hixson
    • , Brian Hobbs
    • , John Hokanson
    • , Elliott Hong
    • , Karin Hoth
    • , Chao (Agnes) Hsiung
    • , Yi-Jen Hung
    • , Haley Huston
    • , Chii Min Hwu
    • , Marguerite R. Irvin
    • , Rebecca Jackson
    • , Deepti Jain
    • , Cashell Jaquish
    • , Min A. Jhun
    • , Jill Johnsen
    • , Andrew Johnson
    • , Craig Johnson
    • , Rich Johnston
    • , Kimberly Jones
    • , Hyun Min Kang
    • , Robert Kaplan
    • , Sharon L. R. Kardia
    • , Sekar Kathiresan
    • , Shannon Kelly
    • , Eimear Kenny
    • , Michael Kessler
    • , Alyna T. Khan
    • , Wonji Kim
    • , Greg Kinney
    • , Barbara Konkle
    • , Charles L. Kooperberg
    • , Holly Kramer
    • , Christoph Lange
    • , Ethan Lange
    • , Leslie Lange
    • , Cathy C. Laurie
    • , Cecelia Laurie
    • , Meryl LeBoff
    • , Jiwon Lee
    • , Seunggeun Shawn Lee
    • , Wen-Jane Lee
    • , Jonathon LeFaive
    • , David Levine
    • , Dan Levy
    • , Joshua Lewis
    • , Xiaohui Li
    • , Yun Li
    • , Henry Lin
    • , Honghuang Lin
    • , Keng Han Lin
    • , Xihong Lin
    • , Simin Liu
    • , Yongmei Liu
    • , Yu Liu
    • , Ruth J. F. Loos
    • , Steven Lubitz
    • , Kathryn Lunetta
    • , James Luo
    • , Michael C. Mahaney
    • , Barry Make
    • , Ani W. Manichaikul
    • , JoAnn Manson
    • , Lauren Margolin
    • , Lisa W. Martin
    • , Susan Mathai
    • , Rasika A. Mathias
    • , Susanne May
    • , Patrick McArdle
    • , Merry-Lynn McDonald
    • , Sean McFarland
    • , Stephen T. McGarvey
    • , Daniel McGoldrick
    • , Caitlin McHugh
    • , Hao Mei
    • , Luisa Mestroni
    • , Deborah A. Meyers
    • , Julie Mikulla
    • , Nancy Min
    • , Mollie Minear
    • , Ryan L. Minster
    • , Braxton D. Mitchell
    • , Matt Moll
    • , May E. Montasser
    • , Courtney Montgomery
    • , Arden Moscati
    • , Solomon Musani
    • , Stanford Mwasongwe
    • , Josyf C. Mychaleckyj
    • , Girish Nadkarni
    • , Rakhi Naik
    • , Take Naseri
    • , Pradeep Natarajan
    • , Sergei Nekhai
    • , Sarah C. Nelson
    • , Bonnie Neltner
    • , Deborah Nickerson
    • , Kari North
    • , Jeffrey R. O’Connell
    • , Tim O’Connor
    • , Heather Ochs-Balcom
    • , David Paik
    • , Nicholette D. Palmer
    • , James Pankow
    • , George Papanicolaou
    • , Afshin Parsa
    • , Juan M. Peralta
    • , Marco Perez
    • , James Perry
    • , Ulrike Peters
    • , Patricia A. Peyser
    • , Lawrence S. Phillips
    • , Toni Pollin
    • , Wendy Post
    • , Julia Powers Becker
    • , Meher Preethi Boorgula
    • , Michael Preuss
    • , Bruce M. Psaty
    • , Pankaj Qasba
    • , Dandi Qiao
    • , Zhaohui Qin
    • , Nicholas Rafaels
    • , Laura Raffield
    • , Ramachandran S. Vasan
    • , D. C. Rao
    • , Laura Rasmussen-Torvik
    • , Aakrosh Ratan
    • , Susan Redline
    • , Robert Reed
    • , Elizabeth Regan
    • , Alex Reiner
    • , Muagututi‘a Sefuiva Reupena
    • , Kenneth M. Rice
    • , Stephen S. Rich
    • , Dan Roden
    • , Carolina Roselli
    • , Jerome I. Rotter
    • , Ingo Ruczinski
    • , Pamela Russell
    • , Sarah Ruuska
    • , Kathleen Ryan
    • , Ester Cerdeira Sabino
    • , Danish Saleheen
    • , Shabnam Salimi
    • , Steven Salzberg
    • , Kevin Sandow
    • , Vijay G. Sankaran
    • , Christopher Scheller
    • , Ellen Schmidt
    • , Karen Schwander
    • , David Schwartz
    • , Frank Sciurba
    • , Christine Seidman
    • , Jonathan Seidman
    • , Vivien Sheehan
    • , Stephanie L. Sherman
    • , Amol Shetty
    • , Aniket Shetty
    • , Wayne Hui-Heng Sheu
    • , M. Benjamin Shoemaker
    • , Brian Silver
    • , Edwin Silverman
    • , Jennifer A. Smith
    • , Josh Smith
    • , Nicholas Smith
    • , Tanja Smith
    • , Sylvia Smoller
    • , Beverly Snively
    • , Michael Snyder
    • , Tamar Sofer
    • , Nona Sotoodehnia
    • , Adrienne M. Stilp
    • , Garrett Storm
    • , Elizabeth Streeten
    • , Jessica Lasky Su
    • , Yun Ju Sung
    • , Jody Sylvia
    • , Adam Szpiro
    • , Carole Sztalryd
    • , Daniel Taliun
    • , Hua Tang
    • , Margaret Taub
    • , Kent D. Taylor
    • , Matthew Taylor
    • , Simeon Taylor
    • , Marilyn Telen
    • , Timothy A. Thornton
    • , Machiko Threlkeld
    • , Lesley Tinker
    • , David Tirschwell
    • , Sarah Tishkoff
    • , Hemant K. Tiwari
    • , Catherine Tong
    • , Russell Tracy
    • , Michael Y. Tsai
    • , Dhananjay Vaidya
    • , David Van Den Berg
    • , Peter VandeHaar
    • , Scott Vrieze
    • , Tarik Walker
    • , Robert Wallace
    • , Avram Walts
    • , Fei Fei Wang
    • , Heming Wang
    • , Karol Watson
    • , Daniel E. Weeks
    • , Bruce Weir
    • , Scott Weiss
    • , Lu-Chen Weng
    • , Jennifer Wessel
    • , Cristen J. Willer
    • , Kayleen Williams
    • , L. Keoki Williams
    • , Carla Wilson
    • , James G. Wilson
    • , Quenna Wong
    • , Joseph Wu
    • , Huichun Xu
    • , Lisa R. Yanek
    • , Ivana Yang
    • , Rongze Yang
    • , Norann Zaghloul
    • , Maryam Zekavat
    • , Yingze Zhang
    • , Snow Xueyan Zhao
    • , Wei Zhao
    • , Degui Zhi
    • , Xiang Zhou
    • , Xiaofeng Zhu
    • , Michael Zody
    • , Sebastian Zoellner
    • , Moustafa Abdalla
    • , Gonçalo R. Abecasis
    • , Donna K. Arnett
    • , Stella Aslibekyan
    • , Tim Assimes
    • , Elizabeth Atkinson
    • , Christie M. Ballantyne
    • , Amber Beitelshees
    • , Lawrence F. Bielak
    • , Joshua Bis
    • , Corneliu Bodea
    • , Eric Boerwinkle
    • , Donald W. Bowden
    • , Jennifer Brody
    • , Brian Cade
    • , Jenna Carlson
    • , I-Shou Chang
    • , Yii-Der Ida Chen
    • , Sung Chun
    • , Ren-Hua Chung
    • , Matthew P. Conomos
    • , Adolfo Correa
    • , L. Adrienne Cupples
    • , Coleen Damcott
    • , Paul de Vries
    • , Ron Do
    • , Amanda Elliott
    • , Mao Fu
    • , Andrea Ganna
    • , Da-Wei Gong
    • , Sarah Graham
    • , Mary Haas
    • , Bernhard Haring
    • , Jiang He
    • , Susan Heckbert
    • , Blanca Himes
    • , James Hixson
    • , Marguerite R. Irvin
    • , Deepti Jain
    • , Gail Jarvik
    • , Min A. Jhun
    • , Jicai Jiang
    • , Goo Jun
    • , Rita Kalyani
    • , Sharon L. R. Kardia
    • , Sekar Kathiresan
    • , Amit Khera
    • , Derek Klarin
    • , Charles L. Kooperberg
    • , Brian Kral
    • , Leslie Lange
    • , Cathy C. Laurie
    • , Cecelia Laurie
    • , Rozenn Lemaitre
    • , Zilin Li
    • , Xihao Li
    • , Xihong Lin
    • , Michael C. Mahaney
    • , Ani W. Manichaikul
    • , Lisa W. Martin
    • , Rasika A. Mathias
    • , Ravi Mathur
    • , Stephen T. McGarvey
    • , Caitlin McHugh
    • , John McLenithan
    • , Julie Mikulla
    • , Braxton D. Mitchell
    • , May E. Montasser
    • , Andrew Moran
    • , Alanna C. Morrison
    • , Tetsushi Nakao
    • , Pradeep Natarajan
    • , Deborah Nickerson
    • , Kari North
    • , Jeffrey R. O’Connell
    • , Christopher O’Donnell
    • , Nicholette D. Palmer
    • , Akhil Pampana
    • , Aniruddh Patel
    • , Gina M. Peloso
    • , James Perry
    • , Ulrike Peters
    • , Patricia A. Peyser
    • , James Pirruccello
    • , Toni Pollin
    • , Michael Preuss
    • , Bruce M. Psaty
    • , D. C. Rao
    • , Susan Redline
    • , Robert Reed
    • , Alex Reiner
    • , Stephen S. Rich
    • , Samantha Rosenthal
    • , Jerome I. Rotter
    • , Jenny Schoenberg
    • , Margaret Sunitha Selvaraj
    • , Wayne Hui-Heng Sheu
    • , Jennifer A. Smith
    • , Tamar Sofer
    • , Adrienne M. Stilp
    • , Shamil R. Sunyaev
    • , Ida Surakka
    • , Carole Sztalryd
    • , Hua Tang
    • , Kent D. Taylor
    • , Michael Y. Tsai
    • , Md Mesbah Uddin
    • , Sarah Urbut
    • , Marie Verbanck
    • , Ann Von Holle
    • , Heming Wang
    • , Fei Fei Wang
    • , Kerri Wiggins
    • , Cristen J. Willer
    • , James G. Wilson
    • , Brooke Wolford
    • , Huichun Xu
    • , Lisa R. Yanek
    • , Norann Zaghloul
    • , Maryam Zekavat
    • , Jingwen Zhang
    • , Benjamin M. Neale
    • , Shamil R. Sunyaev
    • , Gonçalo R. Abecasis
    • , Jerome I. Rotter
    • , Cristen J. Willer
    • , Gina M. Peloso
    • , Pradeep Natarajan
    •  & Xihong Lin
    Nature Genetics 52, 969-983

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