Literature DB >> 30609406

Using High-Resolution Variant Frequencies Empowers Clinical Genome Interpretation and Enables Investigation of Genetic Architecture.

Nicola Whiffin1, Angharad M Roberts2, Eric Minikel3, Zach Zappala3, Roddy Walsh2, Anne H O'Donnell-Luria3, Konrad J Karczewski3, Steven M Harrison4, Kate L Thomson5, Helen Sage6, Alexander Y Ing4, Paul J R Barton2, Birgit Funke4, Stuart A Cook7, Daniel G MacArthur8, James S Ware9.   

Abstract

Mesh:

Year:  2019        PMID: 30609406      PMCID: PMC6323549          DOI: 10.1016/j.ajhg.2018.11.012

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN: 0002-9297            Impact factor:   11.025


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  8 in total

Review 1.  Jervell and Lange-Nielsen syndrome: a Norwegian perspective.

Authors:  L Tranebjaerg; J Bathen; J Tyson; M Bitner-Glindzicz
Journal:  Am J Med Genet       Date:  1999-09-24

2.  Identification of Misclassified ClinVar Variants via Disease Population Prevalence.

Authors:  Naisha Shah; Ying-Chen Claire Hou; Hung-Chun Yu; Rachana Sainger; C Thomas Caskey; J Craig Venter; Amalio Telenti
Journal:  Am J Hum Genet       Date:  2018-04-05       Impact factor: 11.025

3.  Quantifying prion disease penetrance using large population control cohorts.

Authors:  Eric Vallabh Minikel; Sonia M Vallabh; Monkol Lek; Karol Estrada; Kaitlin E Samocha; J Fah Sathirapongsasuti; Cory Y McLean; Joyce Y Tung; Linda P C Yu; Pierluigi Gambetti; Janis Blevins; Shulin Zhang; Yvonne Cohen; Wei Chen; Masahito Yamada; Tsuyoshi Hamaguchi; Nobuo Sanjo; Hidehiro Mizusawa; Yosikazu Nakamura; Tetsuyuki Kitamoto; Steven J Collins; Alison Boyd; Robert G Will; Richard Knight; Claudia Ponto; Inga Zerr; Theo F J Kraus; Sabina Eigenbrod; Armin Giese; Miguel Calero; Jesús de Pedro-Cuesta; Stéphane Haïk; Jean-Louis Laplanche; Elodie Bouaziz-Amar; Jean-Philippe Brandel; Sabina Capellari; Piero Parchi; Anna Poleggi; Anna Ladogana; Anne H O'Donnell-Luria; Konrad J Karczewski; Jamie L Marshall; Michael Boehnke; Markku Laakso; Karen L Mohlke; Anna Kähler; Kimberly Chambert; Steven McCarroll; Patrick F Sullivan; Christina M Hultman; Shaun M Purcell; Pamela Sklar; Sven J van der Lee; Annemieke Rozemuller; Casper Jansen; Albert Hofman; Robert Kraaij; Jeroen G J van Rooij; M Arfan Ikram; André G Uitterlinden; Cornelia M van Duijn; Mark J Daly; Daniel G MacArthur
Journal:  Sci Transl Med       Date:  2016-01-20       Impact factor: 17.956

4.  CardioClassifier: disease- and gene-specific computational decision support for clinical genome interpretation.

Authors:  James S Ware; Stuart A Cook; Nicola Whiffin; Roddy Walsh; Risha Govind; Matthew Edwards; Mian Ahmad; Xiaolei Zhang; Upasana Tayal; Rachel Buchan; William Midwinter; Alicja E Wilk; Hanna Najgebauer; Catherine Francis; Sam Wilkinson; Thomas Monk; Laura Brett; Declan P O'Regan; Sanjay K Prasad; Deborah J Morris-Rosendahl; Paul J R Barton; Elizabeth Edwards
Journal:  Genet Med       Date:  2018-01-25       Impact factor: 8.822

5.  Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Authors:  Sue Richards; Nazneen Aziz; Sherri Bale; David Bick; Soma Das; Julie Gastier-Foster; Wayne W Grody; Madhuri Hegde; Elaine Lyon; Elaine Spector; Karl Voelkerding; Heidi L Rehm
Journal:  Genet Med       Date:  2015-03-05       Impact factor: 8.822

6.  Analysis of protein-coding genetic variation in 60,706 humans.

Authors:  Monkol Lek; Konrad J Karczewski; Eric V Minikel; Kaitlin E Samocha; Eric Banks; Timothy Fennell; Anne H O'Donnell-Luria; James S Ware; Andrew J Hill; Beryl B Cummings; Taru Tukiainen; Daniel P Birnbaum; Jack A Kosmicki; Laramie E Duncan; Karol Estrada; Fengmei Zhao; James Zou; Emma Pierce-Hoffman; Joanne Berghout; David N Cooper; Nicole Deflaux; Mark DePristo; Ron Do; Jason Flannick; Menachem Fromer; Laura Gauthier; Jackie Goldstein; Namrata Gupta; Daniel Howrigan; Adam Kiezun; Mitja I Kurki; Ami Levy Moonshine; Pradeep Natarajan; Lorena Orozco; Gina M Peloso; Ryan Poplin; Manuel A Rivas; Valentin Ruano-Rubio; Samuel A Rose; Douglas M Ruderfer; Khalid Shakir; Peter D Stenson; Christine Stevens; Brett P Thomas; Grace Tiao; Maria T Tusie-Luna; Ben Weisburd; Hong-Hee Won; Dongmei Yu; David M Altshuler; Diego Ardissino; Michael Boehnke; John Danesh; Stacey Donnelly; Roberto Elosua; Jose C Florez; Stacey B Gabriel; Gad Getz; Stephen J Glatt; Christina M Hultman; Sekar Kathiresan; Markku Laakso; Steven McCarroll; Mark I McCarthy; Dermot McGovern; Ruth McPherson; Benjamin M Neale; Aarno Palotie; Shaun M Purcell; Danish Saleheen; Jeremiah M Scharf; Pamela Sklar; Patrick F Sullivan; Jaakko Tuomilehto; Ming T Tsuang; Hugh C Watkins; James G Wilson; Mark J Daly; Daniel G MacArthur
Journal:  Nature       Date:  2016-08-18       Impact factor: 49.962

7.  ClinVar: public archive of relationships among sequence variation and human phenotype.

Authors:  Melissa J Landrum; Jennifer M Lee; George R Riley; Wonhee Jang; Wendy S Rubinstein; Deanna M Church; Donna R Maglott
Journal:  Nucleic Acids Res       Date:  2013-11-14       Impact factor: 16.971

8.  Using high-resolution variant frequencies to empower clinical genome interpretation.

Authors:  Nicola Whiffin; Eric Minikel; Roddy Walsh; Anne H O'Donnell-Luria; Konrad Karczewski; Alexander Y Ing; Paul J R Barton; Birgit Funke; Stuart A Cook; Daniel MacArthur; James S Ware
Journal:  Genet Med       Date:  2017-05-18       Impact factor: 8.822

  8 in total
  5 in total

1.  Clinical Genetic Screening in Adult Patients with Kidney Disease.

Authors:  Enrico Cocchi; Jordan Gabriela Nestor; Ali G Gharavi
Journal:  Clin J Am Soc Nephrol       Date:  2020-07-09       Impact factor: 8.237

2.  Assessment of patient clinical descriptions and pathogenic variants from gene panel sequences in the CAGI-5 intellectual disability challenge.

Authors:  Marco Carraro; Alexander Miguel Monzon; Luigi Chiricosta; Francesco Reggiani; Maria Cristina Aspromonte; Mariagrazia Bellini; Kymberleigh Pagel; Yuxiang Jiang; Predrag Radivojac; Kunal Kundu; Lipika R Pal; Yizhou Yin; Ivan Limongelli; Gaia Andreoletti; John Moult; Stephen J Wilson; Panagiotis Katsonis; Olivier Lichtarge; Jingqi Chen; Yaqiong Wang; Zhiqiang Hu; Steven E Brenner; Carlo Ferrari; Alessandra Murgia; Silvio C E Tosatto; Emanuela Leonardi
Journal:  Hum Mutat       Date:  2019-07-03       Impact factor: 4.878

3.  Targeted next generation sequencing in 112 Chinese patients with intellectual disability/developmental delay: novel mutations and candidate gene.

Authors:  Huifang Yan; Zhen Shi; Ye Wu; Jiangxi Xiao; Qiang Gu; Yanling Yang; Ming Li; Kai Gao; Yinyin Chen; Xiaoping Yang; Haoran Ji; Binbin Cao; Ruoyu Duan; Yuwu Jiang; Jingmin Wang
Journal:  BMC Med Genet       Date:  2019-05-14       Impact factor: 2.103

4.  Splicing predictions, minigene analyses, and ACMG-AMP clinical classification of 42 germline PALB2 splice-site variants.

Authors:  Alberto Valenzuela-Palomo; Elena Bueno-Martínez; Lara Sanoguera-Miralles; Víctor Lorca; Eugenia Fraile-Bethencourt; Ada Esteban-Sánchez; Susana Gómez-Barrero; Sara Carvalho; Jamie Allen; Alicia García-Álvarez; Pedro Pérez-Segura; Leila Dorling; Douglas F Easton; Peter Devilee; Maaike Pg Vreeswijk; Miguel de la Hoya; Eladio A Velasco
Journal:  J Pathol       Date:  2021-12-28       Impact factor: 9.883

5.  Minigene-based splicing analysis and ACMG/AMP-based tentative classification of 56 ATM variants.

Authors:  Elena Bueno-Martínez; Lara Sanoguera-Miralles; Alberto Valenzuela-Palomo; Ada Esteban-Sánchez; Víctor Lorca; Inés Llinares-Burguet; Jamie Allen; Alicia García-Álvarez; Pedro Pérez-Segura; Mercedes Durán; Douglas F Easton; Peter Devilee; Maaike Pg Vreeswijk; Miguel de la Hoya; Eladio A Velasco-Sampedro
Journal:  J Pathol       Date:  2022-07-15       Impact factor: 9.883

  5 in total

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