Integrating somatic variant data and biomarkers for germline variant classification in cancer predisposition genes
Human Mutation,Volume 39, Issue 11, Page 1542-1552, November 2018. (Source: Human Mutation)
Source: Human Mutation - October 11, 2018 Category: Genetics & Stem Cells Authors: Michael F. Walsh,
Deborah I. Ritter,
Chimene Kesserwan,
Dmitriy Sonkin,
Debyani Chakravarty,
Elizabeth Chao,
Rajarshi Ghosh,
Yelena Kemel,
Gang Wu,
Kristy Lee,
Shashikant Kulkarni,
Dale Hedges,
Diana Mandelker,
Ozge Ceyhan ‐Birsoy,
Minjie Source Type: research
Adapting crowdsourced clinical cancer curation in CIViC to the ClinGen minimum variant level data community ‐driven standards
Human Mutation,Volume 39, Issue 11, Page 1721-1732, November 2018. (Source: Human Mutation)
Source: Human Mutation - October 11, 2018 Category: Genetics & Stem Cells Authors: Arpad M. Danos,
Deborah I. Ritter,
Alex H. Wagner,
Kilannin Krysiak,
Dmitriy Sonkin,
Christine Micheel,
Matthew McCoy,
Shruti Rao,
Gordana Raca,
Simina M. Boca,
Angshumoy Roy,
Erica K. Barnell,
Joshua F. McMichael,
Susanna Kiwala,
Adam C. Co Source Type: research
Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants
Human Mutation,Volume 39, Issue 11, Page 1553-1568, November 2018. (Source: Human Mutation)
Source: Human Mutation - October 11, 2018 Category: Genetics & Stem Cells Authors: Kristy Lee,
Kate Krempely,
Maegan E. Roberts,
Michael J. Anderson,
Fatima Carneiro,
Elizabeth Chao,
Katherine Dixon,
Joana Figueiredo,
Rajarshi Ghosh,
David Huntsman,
Pardeep Kaurah,
Chimene Kesserwan,
Tyler Landrith,
Shuwei Li,
Arjen R. Men Source Type: research
ClinGen Allele Registry links information about genetic variants
Human Mutation,Volume 39, Issue 11, Page 1690-1701, November 2018. (Source: Human Mutation)
Source: Human Mutation - October 11, 2018 Category: Genetics & Stem Cells Authors: Piotr Pawliczek,
Ronak Y. Patel,
Lillian R. Ashmore,
Andrew R. Jackson,
Chris Bizon,
Tristan Nelson,
Bradford Powell,
Robert R. Freimuth,
Natasha Strande,
Neethu Shah,
Sameer Paithankar,
Matt W. Wright,
Selina Dwight,
Jimmy Zhen,
Melissa Lan Source Type: research
Gene ‐specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel
Human Mutation,Volume 39, Issue 11, Page 1581-1592, November 2018. (Source: Human Mutation)
Source: Human Mutation - October 11, 2018 Category: Genetics & Stem Cells Authors: Jessica L. Mester,
Rajarshi Ghosh,
Tina Pesaran,
Robert Huether,
Rachid Karam,
Kathleen S. Hruska,
Helio A. Costa,
Katherine Lachlan,
Joanne Ngeow,
Jill Barnholtz ‐Sloan,
Kaitlin Sesock,
Felicia Hernandez,
Liying Zhang,
Laura Milko,
Sharon Source Type: research
ClinVar database of global familial hypercholesterolemia ‐associated DNA variants
Human Mutation,Volume 39, Issue 11, Page 1631-1640, November 2018. (Source: Human Mutation)
Source: Human Mutation - October 11, 2018 Category: Genetics & Stem Cells Authors: Michael A. Iacocca,
Joana R. Chora,
Alain Carri é,
Tomáš Freiberger,
Sarah E. Leigh,
Joep C. Defesche,
C. Lisa Kurtz,
Marina T. DiStefano,
Raul D. Santos,
Steve E. Humphries,
Pedro Mata,
Cinthia E. Jannes,
Amanda J. Hooper,
Katherine A. Wi Source Type: research
ClinGen's GenomeConnect registry enables patient ‐centered data sharing
Human Mutation,Volume 39, Issue 11, Page 1668-1676, November 2018. (Source: Human Mutation)
Source: Human Mutation - October 11, 2018 Category: Genetics & Stem Cells Authors: Juliann M. Savatt,
Danielle R. Azzariti,
W. Andrew Faucett,
Steven Harrison,
Jennifer Hart,
Brandi Kattman,
Melissa J. Landrum,
David H. Ledbetter,
Vanessa Rangel Miller,
Emily Palen,
Heidi L. Rehm,
Jud Rhode,
Stefanie Turner,
Jo Anne Vidal, Source Type: research
The ClinGen Epilepsy Gene Curation Expert Panel —Bridging the divide between clinical domain knowledge and formal gene curation criteria
Human Mutation,Volume 39, Issue 11, Page 1476-1484, November 2018. (Source: Human Mutation)
Source: Human Mutation - October 11, 2018 Category: Genetics & Stem Cells Authors: Ingo Helbig,
Erin Rooney Riggs,
Carrie ‐Anne Barry,
Karl Martin Klein,
David Dyment,
Courtney Thaxton,
Bekim Sadikovic,
Tristan T. Sands,
Jacy L. Wagnon,
Khalida Liaquat,
Maria Roberta Cilio,
Ghayda Mirzaa,
Kristen Park,
Erika Axeen,
Eliza Source Type: research
Evidence ‐based assessments of clinical actionability in the context of secondary findings: Updates from ClinGen's Actionability Working Group
Human Mutation,Volume 39, Issue 11, Page 1677-1685, November 2018. (Source: Human Mutation)
Source: Human Mutation - October 11, 2018 Category: Genetics & Stem Cells Authors: Elizabeth M. Webber,
Jessica Ezzell Hunter,
Leslie G. Biesecker,
Adam H. Buchanan,
Elizabeth V. Clarke,
Erin Currey,
Orit Dagan ‐Rosenfeld,
Kristy Lee,
Noralane M. Lindor,
Christa Lese Martin,
Aleksandar Milosavljevic,
Kathleen F. Mittendorf, Source Type: research
Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss
Human Mutation,Volume 39, Issue 11, Page 1593-1613, November 2018. (Source: Human Mutation)
Source: Human Mutation - October 11, 2018 Category: Genetics & Stem Cells Authors: Andrea M. Oza,
Marina T. DiStefano,
Sarah E. Hemphill,
Brandon J. Cushman,
Andrew R. Grant,
Rebecca K. Siegert,
Jun Shen,
Alex Chapin,
Nicole J. Boczek,
Lisa A. Schimmenti,
Jaclyn B. Murry,
Linda Hasadsri,
Kiyomitsu Nara,
Margaret Kenna,
Kev Source Type: research
On the verge of diagnosis: Detection, reporting, and investigation of de novo variants in novel genes identified by clinical sequencing
Human Mutation,Volume 39, Issue 11, Page 1505-1516, November 2018. (Source: Human Mutation)
Source: Human Mutation - October 11, 2018 Category: Genetics & Stem Cells Authors: Isabelle Thiffault,
Maxime Cadieux ‐Dion,
Emily Farrow,
Raymond Caylor,
Neil Miller,
Sarah Soden,
Carol Saunders Source Type: research
Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach
Human Mutation,Volume 39, Issue 11, Page 1641-1649, November 2018. (Source: Human Mutation)
Source: Human Mutation - October 11, 2018 Category: Genetics & Stem Cells Authors: Steven M. Harrison,
Jill S. Dolinksy,
Wenjie Chen,
Christin D. Collins,
Soma Das,
Joshua L. Deignan,
Kathryn B. Garber,
John Garcia,
Olga Jarinova,
Amy E. Knight Johnson,
Juha W. Koskenvuo,
Hane Lee,
Rong Mao,
Rebecca Mar ‐Heyming,
Andrew Source Type: research
Assessing the gene –disease association of 19 genes with the RASopathies using the ClinGen gene curation framework
Human Mutation,Volume 39, Issue 11, Page 1485-1493, November 2018. (Source: Human Mutation)
Source: Human Mutation - October 11, 2018 Category: Genetics & Stem Cells Authors: Andrew R. Grant,
Brandon J. Cushman,
H élène Cavé,
Mitchell W. Dillon,
Bruce D. Gelb,
Karen W. Gripp,
Jennifer A. Lee,
Heather Mason‐Suares,
Katherine A. Rauen,
Marco Tartaglia,
Lisa M. Vincent,
Martin Zenker Source Type: research
ClinGen advancing genomic data ‐sharing standards as a GA4GH driver project
Human Mutation,Volume 39, Issue 11, Page 1686-1689, November 2018. (Source: Human Mutation)
Source: Human Mutation - October 11, 2018 Category: Genetics & Stem Cells Authors: Lena Dolman,
Angela Page,
Lawrence Babb,
Robert R. Freimuth,
Harindra Arachchi,
Chris Bizon,
Matthew Brush,
Marc Fiume,
Melissa Haendel,
David P. Hansen,
Aleksandar Milosavljevic,
Ronak Y. Patel,
Piotr Pawliczek,
Andrew D. Yates,
Heidi L. Re Source Type: research
Genetic database software as medical devices
Human Mutation,Volume 39, Issue 11, Page 1702-1712, November 2018. (Source: Human Mutation)
Source: Human Mutation - October 11, 2018 Category: Genetics & Stem Cells Authors: Adrian Thorogood,
Seydina B. Tour é,
Johan Ordish,
Alison Hall,
Bartha Knoppers Source Type: research
