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Is Part Of Human mutation. Volume 39:Issue 11(2018)

1. Adapting crowdsourced clinical cancer curation in CIViC to the ClinGen minimum variant level data community‐driven standards. Issue 11 (11th October 2018)

Authors:
Danos, Arpad M.; Ritter, Deborah I.; Wagner, Alex H.; Krysiak, Kilannin; Sonkin, Dmitriy; Micheel, Christine; McCoy, Matthew; Rao, Shruti; Raca, Gordana; Boca, Simina M.; Roy, Angshumoy; Barnell, Erica K.; McMichael, Joshua F.; Kiwala, Susanna; Coffman, Adam C.; Kujan, Lynzey; Kulkarni, Shashikan...
Other Names:
Rehm Heidi L. guestEditor.; Berg Jonathan S. guestEditor.; Plon Sharon E. guestEditor.
Journal:
Human mutation
Issue:
Volume 39:Issue 11(2018)
Page Start:
1721
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

2. Assessing the gene–disease association of 19 genes with the RASopathies using the ClinGen gene curation framework. Issue 11 (11th October 2018)

Authors:
Grant, Andrew R.; Cushman, Brandon J.; Cavé, Hélène; Dillon, Mitchell W.; Gelb, Bruce D.; Gripp, Karen W.; Lee, Jennifer A.; Mason‐Suares, Heather; Rauen, Katherine A.; Tartaglia, Marco; Vincent, Lisa M.; Zenker, Martin
Other Names:
Rehm Heidi L. guestEditor.; Berg Jonathan S. guestEditor.; Plon Sharon E. guestEditor.
Journal:
Human mutation
Issue:
Volume 39:Issue 11(2018)
Page Start:
1485
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. ClinGen advancing genomic data‐sharing standards as a GA4GH driver project. Issue 11 (11th October 2018)

Authors:
Dolman, Lena; Page, Angela; Babb, Lawrence; Freimuth, Robert R.; Arachchi, Harindra; Bizon, Chris; Brush, Matthew; Fiume, Marc; Haendel, Melissa; Hansen, David P.; Milosavljevic, Aleksandar; Patel, Ronak Y.; Pawliczek, Piotr; Yates, Andrew D.; Rehm, Heidi L.
Other Names:
Rehm Heidi L. guestEditor.; Berg Jonathan S. guestEditor.; Plon Sharon E. guestEditor.
Journal:
Human mutation
Issue:
Volume 39:Issue 11(2018)
Page Start:
1686
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. ClinGen Allele Registry links information about genetic variants. Issue 11 (11th October 2018)

Authors:
Pawliczek, Piotr; Patel, Ronak Y.; Ashmore, Lillian R.; Jackson, Andrew R.; Bizon, Chris; Nelson, Tristan; Powell, Bradford; Freimuth, Robert R.; Strande, Natasha; Shah, Neethu; Paithankar, Sameer; Wright, Matt W.; Dwight, Selina; Zhen, Jimmy; Landrum, Melissa; McGarvey, Peter; Babb, Larry; Plon,...
Other Names:
Rehm Heidi L. guestEditor.; Berg Jonathan S. guestEditor.; Plon Sharon E. guestEditor.
Journal:
Human mutation
Issue:
Volume 39:Issue 11(2018)
Page Start:
1690
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

6. ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene‐level specification of the ACMG/AMP guidelines for sequence variant interpretation. Issue 11 (11th October 2018)

Authors:
Rivera‐Muñoz, Edgar A.; Milko, Laura V.; Harrison, Steven M.; Azzariti, Danielle R.; Kurtz, C. Lisa; Lee, Kristy; Mester, Jessica L.; Weaver, Meredith A.; Currey, Erin; Craigen, William; Eng, Charis; Funke, Birgit; Hegde, Madhuri; Hershberger, Ray E.; Mao, Rong; Steiner, Robert D.; Vincent, Lisa ...
Other Names:
Rehm Heidi L. guestEditor.; Berg Jonathan S. guestEditor.; Plon Sharon E. guestEditor.
Journal:
Human mutation
Issue:
Volume 39:Issue 11(2018)
Page Start:
1614
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

7. ClinGen's GenomeConnect registry enables patient‐centered data sharing. Issue 11 (11th October 2018)

Authors:
Savatt, Juliann M.; Azzariti, Danielle R.; Faucett, W. Andrew; Harrison, Steven; Hart, Jennifer; Kattman, Brandi; Landrum, Melissa J.; Ledbetter, David H.; Miller, Vanessa Rangel; Palen, Emily; Rehm, Heidi L.; Rhode, Jud; Turner, Stefanie; Vidal, Jo Anne; Wain, Karen E.; Riggs, Erin Rooney; Marti...
Other Names:
Rehm Heidi L. guestEditor.; Berg Jonathan S. guestEditor.; Plon Sharon E. guestEditor.
Journal:
Human mutation
Issue:
Volume 39:Issue 11(2018)
Page Start:
1668
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

9. ClinVar database of global familial hypercholesterolemia‐associated DNA variants. Issue 11 (11th October 2018)

Authors:
Iacocca, Michael A.; Chora, Joana R.; Carrié, Alain; Freiberger, Tomáš; Leigh, Sarah E.; Defesche, Joep C.; Kurtz, C. Lisa; DiStefano, Marina T.; Santos, Raul D.; Humphries, Steve E.; Mata, Pedro; Jannes, Cinthia E.; Hooper, Amanda J.; Wilemon, Katherine A.; Benlian, Pascale; O'Connor, Robert; Ga...
Other Names:
Rehm Heidi L. guestEditor.; Berg Jonathan S. guestEditor.; Plon Sharon E. guestEditor.
Journal:
Human mutation
Issue:
Volume 39:Issue 11(2018)
Page Start:
1631
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

10. Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVar. Issue 11 (11th October 2018)

Authors:
Riggs, Erin R.; Nelson, Tristan; Merz, Andrew; Ackley, Todd; Bunke, Brian; Collins, Christin D.; Collinson, Morag N.; Fan, Yao‐Shan; Goodenberger, McKinsey L.; Golden, Denae M.; Haglund‐Hazy, Linda; Krgovic, Danijela; Lamb, Allen N.; Lewis, Zoe; Li, Guang; Liu, Yajuan; Meck, Jeanne; Neufeld‐Kaise...
Other Names:
Rehm Heidi L. guestEditor.; Berg Jonathan S. guestEditor.; Plon Sharon E. guestEditor.
Journal:
Human mutation
Issue:
Volume 39:Issue 11(2018)
Page Start:
1650
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

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