Volume 39; Issue 11

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Human Mutation
Volume 39; Issue 11

Human Mutation

Volume 39; Issue 11

1

The ClinGen Epilepsy Gene Curation Expert Panel-Bridging the divide between clinical domain knowledge and formal gene curation criteria

Helbig, Ingo, Riggs, Erin Rooney, Barry, Carrie-Anne, Klein, Karl Martin, Dyment, David, Thaxton, Courtney, Sadikovic, Bekim, Sands, Tristan T., Wagnon, Jacy L., Liaquat, Khalida, Cilio, Maria Roberta

Journal:

Year:

2018

Language:

english

File:

PDF, 616 KB

english, 2018

2

The clinical imperative for inclusivity: Race, ethnicity, and ancestry (REA) in genomics

Popejoy, Alice B., Ritter, Deborah I., Crooks, Kristy, Currey, Erin, Fullerton, Stephanie M., Hindorff, Lucia A., Koenig, Barbara, Ramos, Erin M., Sorokin, Elena P., Wand, Hannah, Wright, Mathew W., Z

Journal:

Year:

2018

Language:

english

File:

PDF, 624 KB

english, 2018

3

ClinGen advancing genomic data-sharing standards as a GA4GH driver project

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, Ro

Journal:

Year:

2018

Language:

english

File:

PDF, 257 KB

english, 2018

4

Evidence-based assessments of clinical actionability in the context of secondary findings: Updates from ClinGen's Actionability Working Group

Webber, Elizabeth M., Hunter, Jessica Ezzell, Biesecker, Leslie G., Buchanan, Adam H., Clarke, Elizabeth V., Currey, Erin, Dagan-Rosenfeld, Orit, Lee, Kristy, Lindor, Noralane M., Martin, Christa Lese

Journal:

Year:

2018

Language:

english

File:

PDF, 343 KB

english, 2018

5

Gene-specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel

Mester, Jessica L., Ghosh, Rajarshi, Pesaran, Tina, Huether, Robert, Karam, Rachid, Hruska, Kathleen S., Costa, Helio A., Lachlan, Katherine, Ngeow, Joanne, Barnholtz-Sloan, Jill, Sesock, Kaitlin, Her

Journal:

Year:

2018

Language:

english

File:

PDF, 353 KB

english, 2018

6

Updated recommendation for the benign stand-alone ACMG/AMP criterion

Ghosh, Rajarshi, Harrison, Steven M., Rehm, Heidi L., Plon, Sharon E., Biesecker, Leslie G.

Journal:

Year:

2018

Language:

english

File:

PDF, 276 KB

english, 2018

7

Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants

Lee, Kristy, Krempely, Kate, Roberts, Maegan E., Anderson, Michael J., Carneiro, Fatima, Chao, Elizabeth, Dixon, Katherine, Figueiredo, Joana, Ghosh, Rajarshi, Huntsman, David, Kaurah, Pardeep, Kesser

Journal:

Year:

2018

Language:

english

File:

PDF, 627 KB

english, 2018

8

Adapting crowdsourced clinical cancer curation in CIViC to the ClinGen minimum variant level data community-driven standards

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, Eric

Journal:

Year:

2018

Language:

english

File:

PDF, 2.43 MB

english, 2018

9

Integrating somatic variant data and biomarkers for germline variant classification in cancer predisposition genes

Walsh, Michael F., Ritter, Deborah I., Kesserwan, Chimene, Sonkin, Dmitriy, Chakravarty, Debyani, Chao, Elizabeth, Ghosh, Rajarshi, Kemel, Yelena, Wu, Gang, Lee, Kristy, Kulkarni, Shashikant, Hedges,

Journal:

Year:

2018

Language:

english

File:

PDF, 746 KB

english, 2018

10

ClinVar at five years: Delivering on the promise

Landrum, Melissa J., Kattman, Brandi L.

Journal:

Year:

2018

Language:

english

File:

PDF, 426 KB

english, 2018

11

ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretation

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,

Journal:

Year:

2018

Language:

english

File:

PDF, 443 KB

english, 2018

12

Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene

Zastrow, Diane B., Baudet, Heather, Shen, Wei, Thomas, Amanda, Si, Yue, Weaver, Meredith A., Lager, Angela M., Liu, Jixia, Mangels, Rachel, Dwight, Selina S., Wright, Matt W., Dobrowolski, Steven F.,

Journal:

Year:

2018

Language:

english

File:

PDF, 781 KB

english, 2018

13

Genetic database software as medical devices

Thorogood, Adrian, Touré, Seydina B., Ordish, Johan, Hall, Alison, Knoppers, Bartha

Journal:

Year:

2018

Language:

english

File:

PDF, 333 KB

english, 2018

14

Assessing the gene-disease association of 19 genes with the RASopathies using the ClinGen gene curation framework

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

Journal:

Year:

2018

Language:

english

File:

PDF, 318 KB

english, 2018

15

Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss

Oza, Andrea M., DiStefano, Marina T., Hemphill, Sarah E., Cushman, Brandon J., Grant, Andrew R., Siegert, Rebecca K., Shen, Jun, Chapin, Alex, Boczek, Nicole J., Schimmenti, Lisa A., Murry, Jaclyn B.,

Journal:

Year:

2018

Language:

english

File:

PDF, 730 KB

english, 2018

16

Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach

Harrison, Steven M., Dolinksy, Jill S., Chen, Wenjie, Collins, Christin D., Das, Soma, Deignan, Joshua L., Garber, Kathryn B., Garcia, John, Jarinova, Olga, Knight Johnson, Amy E., Koskenvuo, Juha W.,

Journal:

Year:

2018

Language:

english

File:

PDF, 918 KB

english, 2018

17

On the verge of diagnosis: Detection, reporting, and investigation of de novo variants in novel genes identified by clinical sequencing

Thiffault, Isabelle, Cadieux-Dion, Maxime, Farrow, Emily, Caylor, Raymond, Miller, Neil, Soden, Sarah, Saunders, Carol

Journal:

Year:

2018

Language:

english

File:

PDF, 469 KB

english, 2018

18

ClinGen and ClinVar - Enabling Genomics in Precision Medicine

Rehm, Heidi L., Berg, Jonathan S., Plon, Sharon E.

Journal:

Year:

2018

Language:

english

File:

PDF, 250 KB

english, 2018

19

ClinVar database of global familial hypercholesterolemia-associated DNA variants

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, Jan

Journal:

Year:

2018

Language:

english

File:

PDF, 946 KB

english, 2018

20

The progression of the ClinGen gene clinical validity classification over time

McGlaughon, Jennifer L., Goldstein, Jennifer L., Thaxton, Courtney, Hemphill, Sarah E., Berg, Jonathan S.

Journal:

Year:

2018

Language:

english

File:

PDF, 1.11 MB

english, 2018

21

ClinGen's GenomeConnect registry enables patient-centered data sharing

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,

Journal:

Year:

2018

Language:

english

File:

PDF, 944 KB

english, 2018

22

The value of genomic variant ClinVar submissions from clinical providers: Beyond the addition of novel variants

Wain, Karen E., Palen, Emily, Savatt, Juliann M., Shuman, Devin, Finucane, Brenda, Seeley, Andrea, Challman, Thomas D., Myers, Scott M., Martin, Christa Lese

Journal:

Year:

2018

Language:

english

File:

PDF, 448 KB

english, 2018

23

Issue Information

Journal:

Year:

2018

Language:

english

File:

PDF, 195 KB

english, 2018

24

Cover Image, Volume 39, Issue 11

Zastrow, Diane B., Baudet, Heather, Shen, Wei, Thomas, Amanda, Si, Yue, Weaver, Meredith A., Lager, Angela M., Liu, Jixia, Mangels, Rachel, Dwight, Selina S., Wright, Matt W., Dobrowolski, Steven F.,

Journal:

Year:

2018

File:

PDF, 3.94 MB

2018

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