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The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. [electronic resource] by
- McKenna, Aaron
- Hanna, Matthew
- Banks, Eric
- Sivachenko, Andrey
- Cibulskis, Kristian
- Kernytsky, Andrew
- Garimella, Kiran
- Altshuler, David
- Gabriel, Stacey
- Daly, Mark
- DePristo, Mark A
Producer: 20101223
In:
Genome research vol. 20
Availability: No items available.
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26.
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27.
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The variant call format and VCFtools. [electronic resource] by
- Danecek, Petr
- Auton, Adam
- Abecasis, Goncalo
- Albers, Cornelis A
- Banks, Eric
- DePristo, Mark A
- Handsaker, Robert E
- Lunter, Gerton
- Marth, Gabor T
- Sherry, Stephen T
- McVean, Gilean
- Durbin, Richard
Producer: 20111007
In:
Bioinformatics (Oxford, England) vol. 27
Availability: No items available.
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28.
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Next-generation sequencing for HLA typing of class I loci. [electronic resource] by
- Erlich, Rachel L
- Jia, Xiaoming
- Anderson, Scott
- Banks, Eric
- Gao, Xiaojiang
- Carrington, Mary
- Gupta, Namrata
- DePristo, Mark A
- Henn, Matthew R
- Lennon, Niall J
- de Bakker, Paul I W
Producer: 20110419
In:
BMC genomics vol. 12
Availability: No items available.
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29.
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A framework for the detection of de novo mutations in family-based sequencing data. [electronic resource] by
- Francioli, Laurent C
- Cretu-Stancu, Mircea
- Garimella, Kiran V
- Fromer, Menachem
- Kloosterman, Wigard P
- Samocha, Kaitlin E
- Neale, Benjamin M
- Daly, Mark J
- Banks, Eric
- DePristo, Mark A
- de Bakker, Paul Iw
Producer: 20170705
In:
European journal of human genetics : EJHG vol. 25
Availability: No items available.
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30.
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A universal SNP and small-indel variant caller using deep neural networks. [electronic resource] by
- Poplin, Ryan
- Chang, Pi-Chuan
- Alexander, David
- Schwartz, Scott
- Colthurst, Thomas
- Ku, Alexander
- Newburger, Dan
- Dijamco, Jojo
- Nguyen, Nam
- Afshar, Pegah T
- Gross, Sam S
- Dorfman, Lizzie
- McLean, Cory Y
- DePristo, Mark A
Producer: 20190325
In:
Nature biotechnology vol. 36
Availability: No items available.
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31.
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Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13. [electronic resource] by
- Çalışkan, Minal
- Chong, Jessica X
- Uricchio, Lawrence
- Anderson, Rebecca
- Chen, Peixian
- Sougnez, Carrie
- Garimella, Kiran
- Gabriel, Stacey B
- dePristo, Mark A
- Shakir, Khalid
- Matern, Dietrich
- Das, Soma
- Waggoner, Darrel
- Nicolae, Dan L
- Ober, Carole
Producer: 20110516
In:
Human molecular genetics vol. 20
Availability: No items available.
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32.
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From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline. [electronic resource] by
- Van der Auwera, Geraldine A
- Carneiro, Mauricio O
- Hartl, Christopher
- Poplin, Ryan
- Del Angel, Guillermo
- Levy-Moonshine, Ami
- Jordan, Tadeusz
- Shakir, Khalid
- Roazen, David
- Thibault, Joel
- Banks, Eric
- Garimella, Kiran V
- Altshuler, David
- Gabriel, Stacey
- DePristo, Mark A
Producer: 20160719
In:
Current protocols in bioinformatics vol. 43
Availability: No items available.
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33.
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Variation in genome-wide mutation rates within and between human families. [electronic resource] by
- Conrad, Donald F
- Keebler, Jonathan E M
- DePristo, Mark A
- Lindsay, Sarah J
- Zhang, Yujun
- Casals, Ferran
- Idaghdour, Youssef
- Hartl, Chris L
- Torroja, Carlos
- Garimella, Kiran V
- Zilversmit, Martine
- Cartwright, Reed
- Rouleau, Guy A
- Daly, Mark
- Stone, Eric A
- Hurles, Matthew E
- Awadalla, Philip
Producer: 20110915
In:
Nature genetics vol. 43
Availability: No items available.
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34.
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Human genomic regions with exceptionally high levels of population differentiation identified from 911 whole-genome sequences. [electronic resource] by
- Colonna, Vincenza
- Ayub, Qasim
- Chen, Yuan
- Pagani, Luca
- Luisi, Pierre
- Pybus, Marc
- Garrison, Erik
- Xue, Yali
- Tyler-Smith, Chris
- Abecasis, Goncalo R
- Auton, Adam
- Brooks, Lisa D
- DePristo, Mark A
- Durbin, Richard M
- Handsaker, Robert E
- Kang, Hyun Min
- Marth, Gabor T
- McVean, Gil A
Producer: 20150330
In:
Genome biology vol. 15
Availability: No items available.
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35.
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A framework for variation discovery and genotyping using next-generation DNA sequencing data. [electronic resource] by
- DePristo, Mark A
- Banks, Eric
- Poplin, Ryan
- Garimella, Kiran V
- Maguire, Jared R
- Hartl, Christopher
- Philippakis, Anthony A
- del Angel, Guillermo
- Rivas, Manuel A
- Hanna, Matt
- McKenna, Aaron
- Fennell, Tim J
- Kernytsky, Andrew M
- Sivachenko, Andrey Y
- Cibulskis, Kristian
- Gabriel, Stacey B
- Altshuler, David
- Daly, Mark J
Producer: 20110701
In:
Nature genetics vol. 43
Availability: No items available.
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36.
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Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia. [electronic resource] by
- Musunuru, Kiran
- Pirruccello, James P
- Do, Ron
- Peloso, Gina M
- Guiducci, Candace
- Sougnez, Carrie
- Garimella, Kiran V
- Fisher, Sheila
- Abreu, Justin
- Barry, Andrew J
- Fennell, Tim
- Banks, Eric
- Ambrogio, Lauren
- Cibulskis, Kristian
- Kernytsky, Andrew
- Gonzalez, Elena
- Rudzicz, Nicholas
- Engert, James C
- DePristo, Mark A
- Daly, Mark J
- Cohen, Jonathan C
- Hobbs, Helen H
- Altshuler, David
- Schonfeld, Gustav
- Gabriel, Stacey B
- Yue, Pin
- Kathiresan, Sekar
Producer: 20101214
In:
The New England journal of medicine vol. 363
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37.
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Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome. [electronic resource] by
- Wenger, Aaron M
- Peluso, Paul
- Rowell, William J
- Chang, Pi-Chuan
- Hall, Richard J
- Concepcion, Gregory T
- Ebler, Jana
- Fungtammasan, Arkarachai
- Kolesnikov, Alexey
- Olson, Nathan D
- Töpfer, Armin
- Alonge, Michael
- Mahmoud, Medhat
- Qian, Yufeng
- Chin, Chen-Shan
- Phillippy, Adam M
- Schatz, Michael C
- Myers, Gene
- DePristo, Mark A
- Ruan, Jue
- Marschall, Tobias
- Sedlazeck, Fritz J
- Zook, Justin M
- Li, Heng
- Koren, Sergey
- Carroll, Andrew
- Rank, David R
- Hunkapiller, Michael W
Producer: 20191106
In:
Nature biotechnology vol. 37
Availability: No items available.
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38.
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A systematic survey of loss-of-function variants in human protein-coding genes. [electronic resource] by
- MacArthur, Daniel G
- Balasubramanian, Suganthi
- Frankish, Adam
- Huang, Ni
- Morris, James
- Walter, Klaudia
- Jostins, Luke
- Habegger, Lukas
- Pickrell, Joseph K
- Montgomery, Stephen B
- Albers, Cornelis A
- Zhang, Zhengdong D
- Conrad, Donald F
- Lunter, Gerton
- Zheng, Hancheng
- Ayub, Qasim
- DePristo, Mark A
- Banks, Eric
- Hu, Min
- Handsaker, Robert E
- Rosenfeld, Jeffrey A
- Fromer, Menachem
- Jin, Mike
- Mu, Xinmeng Jasmine
- Khurana, Ekta
- Ye, Kai
- Kay, Mike
- Saunders, Gary Ian
- Suner, Marie-Marthe
- Hunt, Toby
- Barnes, If H A
- Amid, Clara
- Carvalho-Silva, Denise R
- Bignell, Alexandra H
- Snow, Catherine
- Yngvadottir, Bryndis
- Bumpstead, Suzannah
- Cooper, David N
- Xue, Yali
- Romero, Irene Gallego
- Wang, Jun
- Li, Yingrui
- Gibbs, Richard A
- McCarroll, Steven A
- Dermitzakis, Emmanouil T
- Pritchard, Jonathan K
- Barrett, Jeffrey C
- Harrow, Jennifer
- Hurles, Matthew E
- Gerstein, Mark B
- Tyler-Smith, Chris
Producer: 20120308
In:
Science (New York, N.Y.) vol. 335
Availability: No items available.
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39.
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Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction. [electronic resource] by
- Do, Ron
- Stitziel, Nathan O
- Won, Hong-Hee
- Jørgensen, Anders Berg
- Duga, Stefano
- Angelica Merlini, Pier
- Kiezun, Adam
- Farrall, Martin
- Goel, Anuj
- Zuk, Or
- Guella, Illaria
- Asselta, Rosanna
- Lange, Leslie A
- Peloso, Gina M
- Auer, Paul L
- Girelli, Domenico
- Martinelli, Nicola
- Farlow, Deborah N
- DePristo, Mark A
- Roberts, Robert
- Stewart, Alexander F R
- Saleheen, Danish
- Danesh, John
- Epstein, Stephen E
- Sivapalaratnam, Suthesh
- Hovingh, G Kees
- Kastelein, John J
- Samani, Nilesh J
- Schunkert, Heribert
- Erdmann, Jeanette
- Shah, Svati H
- Kraus, William E
- Davies, Robert
- Nikpay, Majid
- Johansen, Christopher T
- Wang, Jian
- Hegele, Robert A
- Hechter, Eliana
- Marz, Winfried
- Kleber, Marcus E
- Huang, Jie
- Johnson, Andrew D
- Li, Mingyao
- Burke, Greg L
- Gross, Myron
- Liu, Yongmei
- Assimes, Themistocles L
- Heiss, Gerardo
- Lange, Ethan M
- Folsom, Aaron R
- Taylor, Herman A
- Olivieri, Oliviero
- Hamsten, Anders
- Clarke, Robert
- Reilly, Dermot F
- Yin, Wu
- Rivas, Manuel A
- Donnelly, Peter
- Rossouw, Jacques E
- Psaty, Bruce M
- Herrington, David M
- Wilson, James G
- Rich, Stephen S
- Bamshad, Michael J
- Tracy, Russell P
- Cupples, L Adrienne
- Rader, Daniel J
- Reilly, Muredach P
- Spertus, John A
- Cresci, Sharon
- Hartiala, Jaana
- Tang, W H Wilson
- Hazen, Stanley L
- Allayee, Hooman
- Reiner, Alex P
- Carlson, Christopher S
- Kooperberg, Charles
- Jackson, Rebecca D
- Boerwinkle, Eric
- Lander, Eric S
- Schwartz, Stephen M
- Siscovick, David S
- McPherson, Ruth
- Tybjaerg-Hansen, Anne
- Abecasis, Goncalo R
- Watkins, Hugh
- Nickerson, Deborah A
- Ardissino, Diego
- Sunyaev, Shamil R
- O'Donnell, Christopher J
- Altshuler, David
- Gabriel, Stacey
- Kathiresan, Sekar
Producer: 20150223
In:
Nature vol. 518
Availability: No items available.
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