Exome sequencing and the genetic basis of complex traits

A Kiezun, K Garimella, R Do, NO Stitziel, BM Neale… - Nature …, 2012 - nature.com
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Sequencing studies in human genetics: design and interpretation

DB Goldstein, A Allen, J Keebler, EH Margulies… - Nature Reviews …, 2013 - nature.com
Next-generation sequencing is becoming the primary discovery tool in human genetics.
There have been many clear successes in identifying genes that are responsible for …

[HTML][HTML] PoPMuSiC 2.1: a web server for the estimation of protein stability changes upon mutation and sequence optimality

Y Dehouck, JM Kwasigroch, D Gilis, M Rooman - BMC bioinformatics, 2011 - Springer
Background The rational design of modified proteins with controlled stability is of extreme
importance in a whole range of applications, notably in the biotechnological and …

Impact of deleterious passenger mutations on cancer progression

CD McFarland, KS Korolev… - Proceedings of the …, 2013 - National Acad Sciences
Cancer progression is driven by the accumulation of a small number of genetic alterations.
However, these few driver alterations reside in a cancer genome alongside tens of …

Systematic analysis of somatic mutations in phosphorylation signaling predicts novel cancer drivers

J Reimand, GD Bader - Molecular systems biology, 2013 - embopress.org
Large‐scale cancer genome sequencing has uncovered thousands of gene mutations, but
distinguishing tumor driver genes from functionally neutral passenger mutations is a major …

Prediction of missense mutation functionality depends on both the algorithm and sequence alignment employed

S Hicks, DA Wheeler, SE Plon, M Kimmel - Human mutation, 2011 - Wiley Online Library
Multiple algorithms are used to predict the impact of missense mutations on protein structure
and function using algorithm‐generated sequence alignments or manually curated …

The damaging effect of passenger mutations on cancer progression

CD McFarland, JA Yaglom, JW Wojtkowiak, JG Scott… - Cancer research, 2017 - AACR
Genomic instability and high mutation rates cause cancer to acquire numerous mutations
and chromosomal alterations during its somatic evolution; most are termed passengers …

Protein–protein interaction sites are hot spots for disease‐associated nonsynonymous SNPs

A David, R Razali, MN Wass, MJE Sternberg - Human mutation, 2012 - Wiley Online Library
Many nonsynonymous single nucleotide polymorphisms (nsSNPs) are disease causing due
to effects at protein‐protein interfaces. We have integrated a database of the three …

Tug-of-war between driver and passenger mutations in cancer and other adaptive processes

CD McFarland, LA Mirny… - Proceedings of the …, 2014 - National Acad Sciences
Cancer progression is an example of a rapid adaptive process where evolving new traits is
essential for survival and requires a high mutation rate. Precancerous cells acquire a few …

[HTML][HTML] Genotype to phenotype via network analysis

H Carter, M Hofree, T Ideker - Current opinion in genetics & development, 2013 - Elsevier
A prime objective of genomic medicine is the identification of disease-causing mutations and
the mechanisms by which such events result in disease. As most disease phenotypes arise …