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1
Haplotype-resolved assembly of diploid genomes without parental data
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Haplotype-resolved assembly of diploid genomes without parental data

Cheng, Haoyu ; Jarvis, Erich D ; Fedrigo, Olivier ; Koepfli, Klaus-Peter ; Urban, Lara ; Gemmell, Neil J ; Li, Heng

Nature biotechnology, 2022-09, Vol.40 (9), p.1332-1335 [Peer Reviewed Journal]

United States: Nature Publishing Group

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2
Merqury: reference-free quality, completeness, and phasing assessment for genome assemblies
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Merqury: reference-free quality, completeness, and phasing assessment for genome assemblies

Rhie, Arang ; Walenz, Brian P ; Koren, Sergey ; Phillippy, Adam M

Genome Biology, 2020-09, Vol.21 (1), p.245-245, Article 245 [Peer Reviewed Journal]

England: BioMed Central

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3
Multiplicative fitness, rapid haplotype discovery, and fitness decay explain evolution of human MHC
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Multiplicative fitness, rapid haplotype discovery, and fitness decay explain evolution of human MHC

Lobkovsky, Alexander E. ; Levi, Lee ; Wolf, Yuri I. ; Maiers, Martin ; Gragert, Loren ; Alter, Idan ; Louzoun, Yoram ; Koonin, Eugene V.

Proceedings of the National Academy of Sciences - PNAS, 2019-07, Vol.116 (28), p.14098-14104 [Peer Reviewed Journal]

United States: National Academy of Sciences

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4
Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program
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Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program

Taliun, Daniel ; Kessler, Michael D ; Carlson, Jedidiah ; Taliun, Sarah A Gagliano ; Kang, Hyun Min ; Tian, Xiaowen ; Browning, Brian L ; Clarke, Wayne E ; Loesch, Douglas P ; Shetty, Amol C ; Blackwell, Thomas W ; Smith, Albert V ; Liu, Xiaoming ; Conomos, Matthew P ; Bobo, Dean M ; Aguet, François ; Arking, Dan E ; Aslibekyan, Stella ; Auer, Paul L ; Barnard, John ; Barr, R Graham ; Barwick, Lucas ; Becker, Lewis C ; Bielak, Lawrence F ; Bowden, Donald W ; Brody, Jennifer A ; Burchard, Esteban G ; Cade, Brian E ; Chasman, Daniel I ; Chen, Yii-Der Ida ; Choi, Seung Hoan ; Chung, Mina K ; Correa, Adolfo ; Curran, Joanne E ; Custer, Brian ; Daya, Michelle ; DeMeo, Dawn L ; Ellinor, Patrick T ; Eng, Celeste ; Fingerlin, Tasha ; Forer, Lukas ; Fullerton, Stephanie M ; Germer, Soren ; Gottlieb, Daniel J ; Guo, Xiuqing ; He, Jiang ; Heckbert, Susan R ; Kelly, Tanika ; Kelly, Shannon ; Kenny, Eimear E ; Klemmer, Robert ; Konkle, Barbara A ; Kooperberg, Charles ; Köttgen, Anna ; Lasky-Su, Jessica ; Levy, Daniel ; Lin, Xihong ; Liu, Chunyu ; Lubitz, Steven A ; Mak, Angel C Y ; Manichaikul, Ani ; Manning, Alisa K ; Mathias, Rasika A ; McManus, David D ; Meigs, James B ; Meyers, Deborah A ; Montasser, May E ; Montgomery, Courtney ; Morrison, Alanna C ; Murabito, Joanne M ; Nelson, Sarah C ; North, Kari E ; Peloso, Gina M ; Peyser, Patricia A ; Post, Wendy S ; Rao, D C ; Redline, Susan ; Roden, Dan ; Sarnowski, Chloé ; Schwartz, David A ; Sheehan, Vivien A ; Smith, Nicholas L ; Smith, Jennifer A ; Sotoodehnia, Nona ; Tang, Weihong ; Taylor, Kent D ; Telen, Marilyn ; Tracy, Russell P ; Vasan, Ramachandran S ; Viaud-Martinez, Karine A ; Vrieze, Scott ; Weeks, Daniel E ; Weiss, Scott T ; Gan, Weiniu ; Nickerson, Deborah A ; Browning, Sharon R ; Wilson, James G ; Laurie, Cathy C ; Hernandez, Ryan D ; Abecasis, Gonçalo R

Nature (London), 2021-02, Vol.590 (7845), p.290-299 [Peer Reviewed Journal]

England: Nature Publishing Group

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5
The Human Pangenome Project: a global resource to map genomic diversity
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The Human Pangenome Project: a global resource to map genomic diversity

Wang, Ting ; Antonacci-Fulton, Lucinda ; Howe, Kerstin ; Lawson, Heather A ; Lucas, Julian K ; Phillippy, Adam M ; Popejoy, Alice B ; Asri, Mobin ; Carson, Caryn ; Chaisson, Mark J P ; Chang, Xian ; Cook-Deegan, Robert ; Felsenfeld, Adam L ; Fulton, Robert S ; Garrison, Erik P ; Garrison, Nanibaa' A ; Graves-Lindsay, Tina A ; Ji, Hanlee ; Kenny, Eimear E ; Koenig, Barbara A ; Li, Daofeng ; Marschall, Tobias ; McMichael, Joshua F ; Novak, Adam M ; Purushotham, Deepak ; Schneider, Valerie A ; Schultz, Baergen I ; Smith, Michael W ; Sofia, Heidi J ; Weissman, Tsachy ; Flicek, Paul ; Li, Heng ; Miga, Karen H ; Paten, Benedict ; Jarvis, Erich D ; Hall, Ira M ; Eichler, Evan E ; Haussler, David

Nature (London), 2022-04, Vol.604 (7906), p.437-446 [Peer Reviewed Journal]

England: Nature Publishing Group

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6
Multi-platform discovery of haplotype-resolved structural variation in human genomes
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Multi-platform discovery of haplotype-resolved structural variation in human genomes

Chaisson, Mark J P ; Sanders, Ashley D ; Zhao, Xuefang ; Malhotra, Ankit ; Porubsky, David ; Rausch, Tobias ; Gardner, Eugene J ; Rodriguez, Oscar L ; Guo, Li ; Collins, Ryan L ; Fan, Xian ; Wen, Jia ; Handsaker, Robert E ; Fairley, Susan ; Kronenberg, Zev N ; Kong, Xiangmeng ; Hormozdiari, Fereydoun ; Lee, Dillon ; Wenger, Aaron M ; Hastie, Alex R ; Antaki, Danny ; Anantharaman, Thomas ; Audano, Peter A ; Brand, Harrison ; Cantsilieris, Stuart ; Cao, Han ; Cerveira, Eliza ; Chen, Chong ; Chen, Xintong ; Chin, Chen-Shan ; Chong, Zechen ; Chuang, Nelson T ; Lambert, Christine C ; Church, Deanna M ; Clarke, Laura ; Farrell, Andrew ; Flores, Joey ; Galeev, Timur ; Gorkin, David U ; Gujral, Madhusudan ; Guryev, Victor ; Heaton, William Haynes ; Korlach, Jonas ; Kumar, Sushant ; Kwon, Jee Young ; Lam, Ernest T ; Lee, Jong Eun ; Lee, Joyce ; Lee, Wan-Ping ; Lee, Sau Peng ; Li, Shantao ; Marks, Patrick ; Viaud-Martinez, Karine ; Meiers, Sascha ; Munson, Katherine M ; Navarro, Fabio C P ; Nelson, Bradley J ; Nodzak, Conor ; Noor, Amina ; Kyriazopoulou-Panagiotopoulou, Sofia ; Pang, Andy W C ; Qiu, Yunjiang ; Rosanio, Gabriel ; Ryan, Mallory ; Stütz, Adrian ; Spierings, Diana C J ; Ward, Alistair ; Welch, AnneMarie E ; Xiao, Ming ; Xu, Wei ; Zhang, Chengsheng ; Zhu, Qihui ; Zheng-Bradley, Xiangqun ; Lowy, Ernesto ; Yakneen, Sergei ; McCarroll, Steven ; Jun, Goo ; Ding, Li ; Koh, Chong Lek ; Ren, Bing ; Flicek, Paul ; Chen, Ken ; Gerstein, Mark B ; Kwok, Pui-Yan ; Lansdorp, Peter M ; Marth, Gabor T ; Sebat, Jonathan ; Shi, Xinghua ; Bashir, Ali ; Ye, Kai ; Devine, Scott E ; Talkowski, Michael E ; Mills, Ryan E ; Marschall, Tobias ; Korbel, Jan O ; Eichler, Evan E ; Lee, Charles

Nature communications, 2019-04, Vol.10 (1), p.1784-16, Article 1784 [Peer Reviewed Journal]

England: Nature Publishing Group

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7
Haplotype phasing: existing methods and new developments
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Haplotype phasing: existing methods and new developments

Browning, Sharon R ; Browning, Brian L

Nature reviews. Genetics, 2011-10, Vol.12 (10), p.703-714 [Peer Reviewed Journal]

London: Nature Publishing Group

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8
Identification of methylation haplotype blocks aids in deconvolution of heterogeneous tissue samples and tumor tissue-of-origin mapping from plasma DNA
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Identification of methylation haplotype blocks aids in deconvolution of heterogeneous tissue samples and tumor tissue-of-origin mapping from plasma DNA

Guo, Shicheng ; Diep, Dinh ; Plongthongkum, Nongluk ; Fung, Ho-Lim ; Zhang, Kang ; Zhang, Kun

Nature genetics, 2017-04, Vol.49 (4), p.635-642 [Peer Reviewed Journal]

United States: Nature Publishing Group

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9
Haplotyping germline and cancer genomes with high-throughput linked-read sequencing
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Haplotyping germline and cancer genomes with high-throughput linked-read sequencing

Zheng, Grace X Y ; Lau, Billy T ; Schnall-Levin, Michael ; Jarosz, Mirna ; Bell, John M ; Hindson, Christopher M ; Kyriazopoulou-Panagiotopoulou, Sofia ; Masquelier, Donald A ; Merrill, Landon ; Terry, Jessica M ; Mudivarti, Patrice A ; Wyatt, Paul W ; Bharadwaj, Rajiv ; Makarewicz, Anthony J ; Li, Yuan ; Belgrader, Phillip ; Price, Andrew D ; Lowe, Adam J ; Marks, Patrick ; Vurens, Gerard M ; Hardenbol, Paul ; Montesclaros, Luz ; Luo, Melissa ; Greenfield, Lawrence ; Wong, Alexander ; Birch, David E ; Short, Steven W ; Bjornson, Keith P ; Patel, Pranav ; Hopmans, Erik S ; Wood, Christina ; Kaur, Sukhvinder ; Lockwood, Glenn K ; Stafford, David ; Delaney, Joshua P ; Wu, Indira ; Ordonez, Heather S ; Grimes, Susan M ; Greer, Stephanie ; Lee, Josephine Y ; Belhocine, Kamila ; Giorda, Kristina M ; Heaton, William H ; McDermott, Geoffrey P ; Bent, Zachary W ; Meschi, Francesca ; Kondov, Nikola O ; Wilson, Ryan ; Bernate, Jorge A ; Gauby, Shawn ; Kindwall, Alex ; Bermejo, Clara ; Fehr, Adrian N ; Chan, Adrian ; Saxonov, Serge ; Ness, Kevin D ; Hindson, Benjamin J ; Ji, Hanlee P

Nature biotechnology, 2016-03, Vol.34 (3), p.303-311 [Peer Reviewed Journal]

United States: Nature Publishing Group

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10
Curated variation benchmarks for challenging medically relevant autosomal genes
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Curated variation benchmarks for challenging medically relevant autosomal genes

Wagner, Justin ; Olson, Nathan D ; Harris, Lindsay ; McDaniel, Jennifer ; Cheng, Haoyu ; Fungtammasan, Arkarachai ; Hwang, Yih-Chii ; Gupta, Richa ; Wenger, Aaron M ; Rowell, William J ; Khan, Ziad M ; Farek, Jesse ; Zhu, Yiming ; Pisupati, Aishwarya ; Mahmoud, Medhat ; Xiao, Chunlin ; Yoo, Byunggil ; Sahraeian, Sayed Mohammad Ebrahim ; Miller, Danny E ; Jáspez, David ; Lorenzo-Salazar, José M ; Muñoz-Barrera, Adrián ; Rubio-Rodríguez, Luis A ; Flores, Carlos ; Narzisi, Giuseppe ; Evani, Uday Shanker ; Clarke, Wayne E ; Lee, Joyce ; Mason, Christopher E ; Lincoln, Stephen E ; Miga, Karen H ; Ebbert, Mark T W ; Shumate, Alaina ; Li, Heng ; Chin, Chen-Shan ; Zook, Justin M ; Sedlazeck, Fritz J

Nature biotechnology, 2022-05, Vol.40 (5), p.672-680 [Peer Reviewed Journal]

United States: Nature Publishing Group

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