Literature DB >> 21376225

Exome sequencing deciphers rare diseases.

Amy Maxmen.   

Abstract

Two years ago, NIH's Undiagnosed Diseases Program began delivering genomics to the clinic on an unprecedented scale. Now, with 128 exomes sequenced and 39 rare diseases diagnosed, the program's success is paving the way for widespread personal genomics while pioneering new techniques for reigning in the "tsunami" of genomics data.
Copyright © 2011 Elsevier Inc. All rights reserved.

Mesh：

Year:  2011        PMID： 21376225     DOI： 10.1016/j.cell.2011.02.033

Source DB:  PubMed          Journal:  Cell        ISSN： 0092-8674            Impact factor:   41.582


  19 in total

1.  X-linked congenital hypertrichosis syndrome is associated with interchromosomal insertions mediated by a human-specific palindrome near SOX3.

Authors:  Hongwen Zhu; Dandan Shang; Miao Sun; Sunju Choi; Qing Liu; Jiajie Hao; Luis E Figuera; Feng Zhang; Kwong Wai Choy; Yang Ao; Yang Liu; Xiao-Lin Zhang; Fengzhen Yue; Ming-Rong Wang; Li Jin; Pragna I Patel; Tao Jing; Xue Zhang
Journal:  Am J Hum Genet       Date:  2011-06-10       Impact factor: 11.025

2.  Mapping rare and common causal alleles for complex human diseases.

Authors:  Soumya Raychaudhuri
Journal:  Cell       Date:  2011-09-30       Impact factor: 41.582

3.  Plasma metabolomic profiles enhance precision medicine for volunteers of normal health.

Authors:  Lining Guo; Michael V Milburn; John A Ryals; Shaun C Lonergan; Matthew W Mitchell; Jacob E Wulff; Danny C Alexander; Anne M Evans; Brandi Bridgewater; Luke Miller; Manuel L Gonzalez-Garay; C Thomas Caskey
Journal:  Proc Natl Acad Sci U S A       Date:  2015-08-17       Impact factor: 11.205

Review 4.  Interpreting functional effects of coding variants: challenges in proteome-scale prediction, annotation and assessment.

Authors:  Khader Shameer; Lokesh P Tripathi; Krishna R Kalari; Joel T Dudley; Ramanathan Sowdhamini
Journal:  Brief Bioinform       Date:  2015-10-22       Impact factor: 11.622

Review 5.  Direct mutation analysis by high-throughput sequencing: from germline to low-abundant, somatic variants.

Authors:  Michael Gundry; Jan Vijg
Journal:  Mutat Res       Date:  2011-10-12       Impact factor: 2.433

6.  Personal genomes, participatory genomics and the anonymity-privacy conundrum.

Authors:  Vinod Scaria
Journal:  J Genet       Date:  2014-12       Impact factor: 1.166

7.  MosaicHunter: accurate detection of postzygotic single-nucleotide mosaicism through next-generation sequencing of unpaired, trio, and paired samples.

Authors:  August Yue Huang; Zheng Zhang; Adam Yongxin Ye; Yanmei Dou; Linlin Yan; Xiaoxu Yang; Yuehua Zhang; Liping Wei
Journal:  Nucleic Acids Res       Date:  2017-06-02       Impact factor: 16.971

8.  Exome sequencing finds a novel PCSK1 mutation in a child with generalized malabsorptive diarrhea and diabetes insipidus.

Authors:  Michael Yourshaw; R Sergio Solorzano-Vargas; Lindsay A Pickett; Iris Lindberg; Jiafang Wang; Galen Cortina; Anna Pawlikowska-Haddal; Howard Baron; Robert S Venick; Stanley F Nelson; Martín G Martín
Journal:  J Pediatr Gastroenterol Nutr       Date:  2013-12       Impact factor: 2.839

Review 9.  Next-generation sequencing in the clinic: are we ready?

Authors:  Leslie G Biesecker; Wylie Burke; Isaac Kohane; Sharon E Plon; Ron Zimmern
Journal:  Nat Rev Genet       Date:  2012-11       Impact factor: 53.242

Review 10.  Molecular genetic testing and the future of clinical genomics.

Authors:  Sara Huston Katsanis; Nicholas Katsanis
Journal:  Nat Rev Genet       Date:  2013-06       Impact factor: 53.242
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