Exome copy number variant (CNV) detection, analysis, and curation from 6,678 families with undiagnosed rare genetic disease

被引：0

作者：

Lemire, Gabrielle ^{[1
,2
,3
,4
]}

Russell, Kathryn ^{[1
]}

Baxter, Samantha ^{[1
,3
,4
]}

Chao, Katherine ^{[1
,3
,4
]}

Evangelista, Emily ^{[1
,2
]}

Singer-Berk, Moriel ^{[1
]}

Sanchis-Juan, Alba ^{[1
,3
,4
]}

Groopman, Emily ^{[1
]}

Wong, Isaac ^{[1
,3
,4
]}

DiTroia, Stephanie ^{[1
,3
,4
]}

England, Eleina ^{[1
,3
,4
]}

Goodrich, Julia ^{[1
,3
,4
]}

Pais, Lynn ^{[1
,2
,3
,4
]}

Austintse, Christina ^{[1
,3
,4
]}

O'Heir, Emily ^{[1
,3
,4
]}

Snow, Hana ^{[1
]}

Osei-Owusu, Ikeoluwa A. ^{[1
,3
,4
]}

Fu, Jack ^{[1
,3
,4
]}

MacArthur, Daniel ^{[1
,5
,6
]}

Rehm, Heidi ^{[1
,3
,4
]}

Talkowski, Michael ^{[1
,3
,4
]}

Brand, Harrison ^{[1
,3
,4
]}

O'Donnell-Luria, Anne ^{[1
,2
,3
,4
]}

机构：

[1] Broad Inst MIT & Harvard, Cambridge, MA USA

[2] Boston Childrens Hosp, Div Genet & Genom, Boston, MA USA

[3] Massachusetts Gen Hosp, Ctr Genom Med, Boston, MA 02114 USA

[4] Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA

[5] Garvan Inst, Ctr Populat Genom, Sydney, NSW, Australia

[6] Murdoch Childrens Res Inst, Ctr Populat Genom, Melbourne, Vic, Australia

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2024年 / 32卷

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：

C17.2

引用

页码：45 / 45

页数：1

共 26 条

[21] Detection of mtDNA variants from short-read genome sequencing data: analysis of 55 families from a rare disease cohort
Pajusalu, Sander
Puusepp, Sanna
Reinson, Karit
Muru, Kai
Reimand, Tiia
Wojcik, Monica H.
O'Donnell-Luria, Anne
Ounap, Katrin
EUROPEAN JOURNAL OF HUMAN GENETICS, 2022, 30 (SUPPL 1) : 474 - 474
[22] THE 16P11.2 DISTAL COPY NUMBER VARIANT CONVEYS DOSE-RESPONSE EFFECTS ON INTRACRANIAL VOLUME AND STRUCTURES OF THE BASAL GANGLIA: A MEGA-ANALYSIS FROM THE ENIGMA-CNV WORKING GROUP
Sonderby, Ida
Nhat Trung Doan
Gustafsson, Omar
Hibar, Derrek
Djurovic, Srdjan
Westlye, Lars Tjelta
Thompson, Paul
Andreassen, Ole
EUROPEAN NEUROPSYCHOPHARMACOLOGY, 2019, 29 : S991 - S991
[23] Detecting disease rare alleles using single SNPs in families and haplotyping in unrelated subjects from the Genetic Analysis Workshop 17 data
Aldi T Kraja
Jacek Czajkowski
Mary F Feitosa
Ingrid B Borecki
Michael A Province
BMC Proceedings, 5 (Suppl 9)
[24] Meta-analysis of whole-exome sequencing data from two independent cohorts finds no evidence for rare variant enrichment in Parkinson disease associated loci
Gaare, Johannes Jernqvist
Nido, Gonzalo
Dolle, Christian
Sztromwasser, Pawel
Alves, Guido
Tysnes, Ole-Bjorn
Haugarvoll, Kristoffer
Tzoulis, Charalampos
PLOS ONE, 2020, 15 (10):
[25] Copy number analysis from whole-exome sequencing data revealed a novel homozygous deletion in PARK7 leads to severe early-onset Parkinson's disease
Seyedtaghia, Mohammad Reza
Soudyab, Mohammad
Shariati, Mohammad
Esfehani, Reza Jafarzadeh
Vafadar, Shabnam
Shalaei, Neda
Nouri, Vahid
Zech, Michael
Winkelmann, Julianne
Shoeibi, Ali
Sadr-Nabavi, Ariane
HELIYON, 2023, 9 (04)
[26] Rare variant burden analysis from exomes of three consanguineous families reveals LILRB1 and PRSS3 as potential key proteins in inflammatory bowel disease pathogenesis
Jan, Rana Mohammed
Al-Numan, Huda Husain
Al-Twaty, Nada Hassan
Alrayes, Nuha
Alsufyani, Hadeel A.
Alaifan, Meshari A.
Alhussaini, Bakr H.
Shaik, Noor Ahmad
Awan, Zuhier
Qari, Yousef
Saadah, Omar I.
Banaganapalli, Babajan
Mosli, Mahmoud Hisham
Elango, Ramu
FRONTIERS IN MEDICINE, 2023, 10

← 1 2 3 →