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ArticlesPeer ReviewedFull Text
A map of constrained coding regions in the human genome
Author / Creator:Havrilla, James M. ; Pedersen, Brent S. ; Layer, Ryan M. ; Quinlan, Aaron R.
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2019-01, Vol.51 (1), p.88-95
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ArticlesPeer ReviewedFull Text
PhenCards: a data resource linking human phenotype information to biomedical knowledge
Author / Creator:Havrilla, James M. ; Liu, Cong ; Dong, Xiangchen ; Weng, Chunhua ; Wang, Kai
Publisher:England: BioMed Central
Journal title:Genome medicine, 2021-05, Vol.13 (1), p.91-91, Article 91
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ArticlesPeer ReviewedFull Text
Phen2Gene: rapid phenotype-driven gene prioritization for rare diseases
Author / Creator:Zhao, Mengge ; Havrilla, James M ; Fang, Li ; Chen, Ying ; Peng, Jacqueline ; Liu, Cong ; Wu, Chao ; Sarmady, Mahdi ; Botas, Pablo ; Isla, Julián ; Lyon, Gholson J ; Weng, Chunhua ; Wang, Kai
Publisher:England: Oxford University Press
Journal title:NAR genomics and bioinformatics, 2020-06, Vol.2 (2), p.lqaa032-lqaa032
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ArticlesPeer ReviewedFull Text
PheNominal: an EHR-integrated web application for structured deep phenotyping at the point of care
Author / Creator:Havrilla, James M. ; Singaravelu, Anbumalar ; Driscoll, Dennis M. ; Minkovsky, Leonard ; Helbig, Ingo ; Medne, Livija ; Wang, Kai ; Krantz, Ian ; Desai, Bimal R.
Publisher:England: BioMed Central Ltd
Journal title:BMC medical informatics and decision making, 2022-07, Vol.22 (S2), p.198-198, Article 198
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ArticlesPeer ReviewedFull Text
An international virtual hackathon to build tools for the analysis of structural variants within species ranging from coronaviruses to vertebrates [version 2; peer review: 1 approved, 3 approved with...
Author / Creator:Mc Cartney, Ann M ; Mahmoud, Medhat ; Jochum, Michael ; Agustinho, Daniel Paiva ; Zorman, Barry ; Al Khleifat, Ahmad ; Dabbaghie, Fawaz ; K Kesharwani, Rupesh ; Smolka, Moritz ; Dawood, Moez ; Albin, Dreycey ; Aliyev, Elbay ; Almabrazi, Hakeem ; Arslan, Ahmed ; Balaji, Advait ; Behera, Sairam ; Billingsley, Kimberley ; L Cameron, Daniel ; Daw, Joyjit ; T. Dawson, Eric ; De Coster, Wouter ; Du, Haowei ; Dunn, Christopher ; Esteban, Rocio ; Jolly, Angad ; Kalra, Divya ; Liao, Chunxiao ; Liu, Yunxi ; Lu, Tsung-Yu ; M Havrilla, James ; M Khayat, Michael ; Marin, Maximillian ; Monlong, Jean ; Price, Stephen ; Rafael Gener, Alejandro ; Ren, Jingwen ; Sagayaradj, Sagayamary ; Sapoval, Nicolae ; Sinner, Claude ; C. Soto, Daniela ; Soylev, Arda ; Subramaniyan, Arun ; Syed, Najeeb ; Tadimeti, Neha ; Tater, Pamella ; Vats, Pankaj ; Vaughn, Justin ; Walker, Kimberly ; Wang, Gaojianyong ; Zeng, Qiandong ; Zhang, Shangzhe ; Zhao, Tingting ; Kille, Bryce ; Biederstedt, Evan ; Chaisson, Mark ; English, Adam ; Kronenberg, Zev ; J. Treangen, Todd ; Hefferon, Timothy ; Chin, Chen-Shan ; Busby, Ben ; J Sedlazeck, Fritz
Publisher:London: Faculty of 1000 Ltd
Journal title:F1000 research, 2021, Vol.10, p.246-246
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ArticlesFull Text
Phen2Gene: Rapid Phenotype-Driven Gene Prioritization for Rare Diseases
Author / Creator:Zhao, Mengge ; Havrilla, James M ; Li, Fang ; Chen, Ying ; Peng, Jacqueline ; Liu, Cong ; Wu, Chao ; Sarmady, Mahdi ; Botas, Pablo ; Isla, Julian ; Lyon, Gholson ; Weng, Chunhua ; Wang, Kai
Publisher:Cold Spring Harbor: Cold Spring Harbor Laboratory Press
Journal title:bioRxiv, 2019-12
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ArticlesFull Text
Co-expression patterns define epigenetic regulators associated with neurological dysfunction
Author / Creator:Boukas, Leandros ; Havrilla, James M ; Quinlan, Aaron R ; Bjornsson, Hans T ; Hansen, Kasper D
Publisher:Cold Spring Harbor: Cold Spring Harbor Laboratory Press
Journal title:bioRxiv, 2018-05
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ArticlesFull Text
A map of constrained coding regions in the human genome
Author / Creator:Havrilla, James M ; Pedersen, Brent S ; Layer, Ryan M ; Quinlan, Aaron R
Publisher:Cold Spring Harbor: Cold Spring Harbor Laboratory Press
Journal title:bioRxiv, 2017-11
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ArticlesFull Text
SV-plaudit: A cloud-based framework for manually curating thousands of structural variants
Author / Creator:Belyeu, Jonathan R ; Nicholas, Thomas J ; Pedersen, Brent S ; Sasani, Thomas A ; Havrilla, James M ; Kravitz, Stephanie N ; Conway, Megan E ; Lohman, Brian K ; Quinlan, Aaron R ; Layer, Ryan M
Publisher:Cold Spring Harbor: Cold Spring Harbor Laboratory Press
Journal title:bioRxiv, 2018-02
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ArticlesPeer ReviewedFull Text
An international virtual hackathon to build tools for the analysis of structural variants within species ranging from coronaviruses to vertebrates [version 1; peer review: 4 approved with reservations...
Author / Creator:Mc Cartney, Ann M ; Mahmoud, Medhat ; Jochum, Michael ; Agustinho, Daniel Paiva ; Zorman, Barry ; Al Khleifat, Ahmad ; Dabbaghie, Fawaz ; K Kesharwani, Rupesh ; Smolka, Moritz ; Dawood, Moez ; Albin, Dreycey ; Aliyev, Elbay ; Almabrazi, Hakeem ; Arslan, Ahmed ; Balaji, Advait ; Behera, Sairam ; Billingsley, Kimberley ; L Cameron, Daniel ; Daw, Joyjit ; T. Dawson, Eric ; De Coster, Wouter ; Du, Haowei ; Dunn, Christopher ; Esteban, Rocio ; Jolly, Angad ; Kalra, Divya ; Liao, Chunxiao ; Liu, Yunxi ; Lu, Tsung-Yu ; M Havrilla, James ; M Khayat, Michael ; Marin, Maximillian ; Monlong, Jean ; Price, Stephen ; Rafael Gener, Alejandro ; Ren, Jingwen ; Sagayaradj, Sagayamary ; Sapoval, Nicolae ; Sinner, Claude ; C. Soto, Daniela ; Soylev, Arda ; Subramaniyan, Arun ; Syed, Najeeb ; Tadimeti, Neha ; Tater, Pamella ; Vats, Pankaj ; Vaughn, Justin ; Walker, Kimberly ; Wang, Gaojianyong ; Zeng, Qiandong ; Zhang, Shangzhe ; Zhao, Tingting ; Kille, Bryce ; Biederstedt, Evan ; Chaisson, Mark ; English, Adam ; Kronenberg, Zev ; J. Treangen, Todd ; Hefferon, Timothy ; Chin, Chen-Shan ; Busby, Ben ; J Sedlazeck, Fritz
Journal title:F1000 research, 2021, Vol.10, p.246
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A map of constrained coding regions in the human genome

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PhenCards: a data resource linking human phenotype information to biomedical knowledge

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Phen2Gene: rapid phenotype-driven gene prioritization for rare diseases

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PheNominal: an EHR-integrated web application for structured deep phenotyping at the point of care

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An international virtual hackathon to build tools for the analysis of structural variants within species ranging from coronaviruses to vertebrates [version 2; peer review: 1 approved, 3 approved with...

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Phen2Gene: Rapid Phenotype-Driven Gene Prioritization for Rare Diseases

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Co-expression patterns define epigenetic regulators associated with neurological dysfunction

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A map of constrained coding regions in the human genome

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SV-plaudit: A cloud-based framework for manually curating thousands of structural variants

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An international virtual hackathon to build tools for the analysis of structural variants within species ranging from coronaviruses to vertebrates [version 1; peer review: 4 approved with reservations...

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