Analysis of population-specific protein-truncating variants in gnomAD suggests novel criteria for annotation of loss-of-function alleles

被引：0

作者：

Barbitoff, Y. A. ^{[1
,2
,3
]}

Skitchenko, R. K. ^{[1
,2
,4
]}

Kornienko, J. S. ^{[1
]}

Maksiutenko, E. M. ^{[3
]}

Predeus, A. V. ^{[1
]}

机构：

[1] Bioinformat Inst, St Petersburg, Russia

[2] DO Ott Res Inst Obstet Gynecol & Reprod, Dept Genom Med, St Petersburg, Russia

[3] St Petersburg State Univ, Dept Genet & Biotechnol, St Petersburg, Russia

[4] ITMO Univ, St Petersburg, Russia

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2020年 / 28卷 / SUPPL 1期

关键词：

D O I：

暂无

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

P19.060.A

引用

页码：721 / 722

页数：2

共 8 条

[1] Disease-associated GRIN protein truncating variants trigger NMDA receptor loss-of-function
Santos-Gomez, Ana
Miguez-Cabello, Federico
Garcia-Recio, Adrian
Locubiche-Serra, Silvia
Garcia-Diaz, Roberto
Soto-Insuga, Victor
Guerrero-Lopez, Rosa
Julia-Palacios, Natalia
Ciruela, Francisco
Garcia-Cazorla, Angels
Soto, David
Olivella, Mireia
Altafaj, Xavier
HUMAN MOLECULAR GENETICS, 2020, 29 (24) : 3859 - 3871
[2] High Throughput Functional Analysis of Coding Variants in PPARG Identifies Novel Loss-of-Function Alleles that Associate With Diabetes Risk and Systolic Blood Pressure
Majithia, Amit
Flannick, Jason
Altshuler, David
Perry, John R. B.
DIABETES, 2013, 62 : A430 - A430
[3] Integrative analysis of loss-of-function variants in clinical and genomic data reveals novel genes associated with cardiovascular traits
Benjamin S. Glicksberg
Letizia Amadori
Nicholas K. Akers
Katyayani Sukhavasi
Oscar Franzén
Li Li
Gillian M. Belbin
Kristin L. Akers
Khader Shameer
Marcus A. Badgeley
Kipp W. Johnson
Ben Readhead
Bruce J. Darrow
Eimear E. Kenny
Christer Betsholtz
Raili Ermel
Josefin Skogsberg
Arno Ruusalepp
Eric E. Schadt
Joel T. Dudley
Hongxia Ren
Jason C. Kovacic
Chiara Giannarelli
Shuyu D. Li
Johan L. M. Björkegren
Rong Chen
BMC Medical Genomics, 12
[4] Integrative analysis of loss-of-function variants in clinical and genomic data reveals novel genes associated with cardiovascular traits
Glicksberg, Benjamin S.
Amadori, Letizia
Akers, Nicholas K.
Sukhavasi, Katyayani
Franzen, Oscar
Li, Li
Belbin, Gillian M.
Akers, Kristin L.
Shameer, Khader
Badgeley, Marcus A.
Johnson, Kipp W.
Readhead, Ben
Darrow, Bruce J.
Kenny, Eimear E.
Betsholtz, Christer
Ermel, Raili
Skogsberg, Josefin
Ruusalepp, Arno
Schadt, Eric E.
Dudleyt, Joel T.
Ren, Hongxia
Kovacic, Jason C.
Giannarelli, Chiara
Liu, Shuyu D.
Bjorkegren, Johan L. M.
Chen, Rong
BMC MEDICAL GENOMICS, 2019, 12 (Suppl 6)
[5] Identification and characterization of novel ACD variants: modulation of TPP1 protein level offsets the impact of germline loss-of-function variants on telomere length
Henslee, Gabrielle
Williams, Christopher L.
Liu, Pengfei
Bertuch, Alison A.
COLD SPRING HARBOR MOLECULAR CASE STUDIES, 2021, 7 (01):
[6] Correction to: Integrative analysis of loss-of-function variants in clinical and genomic data reveals novel genes associated with cardiovascular traits
Benjamin S. Glicksberg
Letizia Amadori
Nicholas K. Akers
Katyayani Sukhavasi
Oscar Franzén
Li Li
Gillian M. Belbin
Kristin L. Ayers
Khader Shameer
Marcus A. Badgeley
Kipp W. Johnson
Ben Readhead
Bruce J. Darrow
Eimear E. Kenny
Christer Betsholtz
Raili Ermel
Josefin Skogsberg
Arno Ruusalepp
Eric E. Schadt
Joel T. Dudley
Hongxia Ren
Jason C. Kovacic
Chiara Giannarelli
Shuyu D. Li
Johan L. M. Björkegren
Rong Chen
BMC Medical Genomics, 12
[7] A Novel, Population-Specific PINK1 p.F385S Loss of Function Mutation in an Indian Family with Parkinson's Disease
Fitzgerald, J.
Sharma, K.
Kishore, A.
Lechado, A.
Raimondi, F.
Sturm, M.
Ashok-Kumar-Sreelatha, A.
Kalikavil-Puthenveedu, D.
Sarma, G.
Casadei, N.
Krueger, R.
Gasser, T.
Kahle, P.
Riess, O.
Sharma, M.
MOVEMENT DISORDERS, 2023, 38 : S642 - S642
[8] Integrative analysis of loss-of-function variants in clinical and genomic data reveals novel genes associated with cardiovascular traits (vol 12, 108, 2019)
Glicksberg, Benjamin S.
Amadori, Letizia
Akers, Nicholas K.
Sukhavasi, Katyayani
Franzen, Oscar
Li, Li
Belbin, Gillian M.
Ayers, Kristin L.
Shameer, Khader
Badgeley, Marcus A.
Johnson, Kipp W.
Readhead, Ben
Darrow, Bruce J.
Kenny, Eimear E.
Betsholtz, Christer
Ermel, Raili
Skogsberg, Josefin
Ruusalepp, Arno
Schadt, Eric E.
Dudley, Joel T.
Ren, Hongxia
Kovacic, Jason C.
Giannarelli, Chiara
Li, Shuyu D.
Bjorkegren, Johan L. M.
Chen, Rong
BMC MEDICAL GENOMICS, 2019, 12 (01)

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