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\providecommand{\abntreprintinfo}[1]{%
\citeonline{#1}}
\setlength{\labelsep}{0pt}\begin{thebibliography}{}
\providecommand{\abntrefinfo}[3]{}
\providecommand{\abntbstabout}[1]{}
\abntbstabout{v-1.9.6 }
\bibitem[Abecasis et al. 2012]{Abecasis2012}
\abntrefinfo{Abecasis et al.}{ABECASIS et al.}{2012}
{ABECASIS, G.~R. et al. {An integrated map of genetic variation from 1,092
human genomes.}
\emph{Nature}, v.~491, n.~7422, p. 56--65, nov 2012.
ISSN 1476-4687.
Dispon{\'\i}vel em:
\url{http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=3498066{\&}tool=pmcentrez{\&}rendertype=abstract
http://www.ncbi.nlm.nih.gov/pubmed/23}.}
\bibitem[Adams 1991]{biomed_info}
\abntrefinfo{Adams}{ADAMS}{1991}
{ADAMS, H.~G. {Medical Informatics: Computer Applications in Health Care}.
\emph{JAMA: The Journal of the American Medical Association}, v.~265, n.~4,
p.~522, jan 1991.
ISSN 0098-7484.
Dispon{\'\i}vel em:
\url{http://jama.jamanetwork.com/article.aspx?doi=10.1001/jama.1991.03460040100041}.}
\bibitem[Adzhubei, Jordan e Sunyaev 2013]{Adzhubei2013}
\abntrefinfo{Adzhubei, Jordan e Sunyaev}{ADZHUBEI; JORDAN; SUNYAEV}{2013}
{ADZHUBEI, I.; JORDAN, D.~M.; SUNYAEV, S.~R. {Predicting Functional Effect of
Human Missense Mutations Using PolyPhen-2}. In: \emph{Current Protocols in
Human Genetics}. Hoboken, NJ, USA: John Wiley {\&} Sons, Inc., 2013. Chapter
7, n. January, p. 7.20.1--7.20.41.
ISBN 0471142905.
Dispon{\'\i}vel em: \url{http://www.ncbi.nlm.nih.gov/pubmed/23315928
http://doi.wiley.com/10.1002/0471142905.hg0720s76}.}
\bibitem[Bamshad et al. 2011]{Bamshad2011a}
\abntrefinfo{Bamshad et al.}{BAMSHAD et al.}{2011}
{BAMSHAD, M.~J. et al. {Exome sequencing as a tool for Mendelian disease gene
discovery.}
\emph{Nature reviews. Genetics}, Nature Publishing Group, v.~12, n.~11, p.
745--55, nov 2011.
ISSN 1471-0064.
Dispon{\'\i}vel em: \url{http://www.ncbi.nlm.nih.gov/pubmed/21946919}.}
\bibitem[Bartoloni et al. 2002]{Bartoloni2002}
\abntrefinfo{Bartoloni et al.}{BARTOLONI et al.}{2002}
{BARTOLONI, L. et al. {Mutations in the DNAH11 (axonemal heavy chain dynein
type 11) gene cause one form of situs inversus totalis and most likely
primary ciliary dyskinesia.}
\emph{Proceedings of the National Academy of Sciences of the United States of
America}, v.~99, n.~16, p. 10282--6, aug 2002.
ISSN 0027-8424.
Dispon{\'\i}vel em: \url{www.ncbi.nlm.nih.gov/pubmed/12142464}.}
\bibitem[Bernstam, Smith e Johnson 2010]{Bernstam2010}
\abntrefinfo{Bernstam, Smith e Johnson}{BERNSTAM; SMITH; JOHNSON}{2010}
{BERNSTAM, E.~V.; SMITH, J.~W.; JOHNSON, T.~R. {What is biomedical
informatics?}
\emph{Journal of biomedical informatics}, Elsevier Inc., v.~43, n.~1, p.
104--10, feb 2010.
ISSN 1532-0480.
Dispon{\'\i}vel em: \url{www.ncbi.nlm.nih.gov/pubmed/19683067}.}
\bibitem[BHATT e BHADKAMKAR 1959]{Report}
\abntrefinfo{BHATT e BHADKAMKAR}{BHATT; BHADKAMKAR}{1959}
{BHATT, V.~P.; BHADKAMKAR, A.~R. \emph{{Situs inversus totalis.}} 1959.
107--110~p.}
\bibitem[Carrozzo et al. 2007]{Carrozzo2007}
\abntrefinfo{Carrozzo et al.}{CARROZZO et al.}{2007}
{CARROZZO, R. et al. {SUCLA2 mutations are associated with mild methylmalonic
aciduria, Leigh-like encephalomyopathy, dystonia and deafness}.
\emph{Brain}, v.~130, n.~Pt 3, p. 862--874, mar 2007.
ISSN 00068950.
Dispon{\'\i}vel em: \url{http://www.ncbi.nlm.nih.gov/pubmed/17301081}.}
\bibitem[Choi et al. 2009]{Choi2009}
\abntrefinfo{Choi et al.}{CHOI et al.}{2009}
{CHOI, M. et al. {Genetic diagnosis by whole exome capture and massively
parallel DNA sequencing.}
\emph{Proceedings of the National Academy of Sciences of the United States of
America}, v.~106, n.~45, p. 19096--101, nov 2009.
ISSN 1091-6490.
Dispon{\'\i}vel em: \url{www.ncbi.nlm.nih.gov/pubmed/19861545}.}
\bibitem[Chong et al. 2015]{Chong2015}
\abntrefinfo{Chong et al.}{CHONG et al.}{2015}
{CHONG, J.~X. et al. {The Genetic Basis of Mendelian Phenotypes: Discoveries,
Challenges, and Opportunities}.
\emph{The American Journal of Human Genetics}, v.~97, n.~2, p. 199--215, aug
2015.
ISSN 00029297.
Dispon{\'\i}vel em:
\url{http://linkinghub.elsevier.com/retrieve/pii/S0002929715002451}.}
\bibitem[Cock et al. 2009]{Cock2009}
\abntrefinfo{Cock et al.}{COCK et al.}{2009}
{COCK, P. J.~a. et al. {The Sanger FASTQ file format for sequences with quality
scores, and the Solexa/Illumina FASTQ variants}.
\emph{Nucleic Acids Research}, v.~38, n.~6, p. 1767--1771, apr 2009.
ISSN 03051048.
Dispon{\'\i}vel em:
\url{http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=2847217{\&}tool=pmcentrez{\&}rendertype=ab}.}
\bibitem[Collins e Varmus 2015]{Collins2015}
\abntrefinfo{Collins e Varmus}{COLLINS; VARMUS}{2015}
{COLLINS, F.~S.; VARMUS, H. {A New Initiative on Precision Medicine.}
\emph{The New England journal of medicine}, v.~372, n.~9, p. 793--5, jan 2015.
ISSN 1533-4406.
Dispon{\'\i}vel em: \url{http://www.nejm.org/doi/abs/10.1056/NEJMp1415160
http://www.ncbi.nlm.nih.gov/pubmed/25635347}.}
\bibitem[Danecek et al. 2011]{Danecek2011}
\abntrefinfo{Danecek et al.}{DANECEK et al.}{2011}
{DANECEK, P. et al. {The variant call format and VCFtools.}
\emph{Bioinformatics (Oxford, England)}, v.~27, n.~15, p. 2156--8, aug 2011.
ISSN 1367-4811.
Dispon{\'\i}vel em:
\url{http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=3137218{\&}tool=pmcentrez{\&}rendertype=ab}.}
\bibitem[DePristo et al. 2011]{DePristo2011}
\abntrefinfo{DePristo et al.}{DEPRISTO et al.}{2011}
{DEPRISTO, M.~a. et al. {A framework for variation discovery and genotyping
using next-generation DNA sequencing data.}
\emph{Nature genetics}, v.~43, n.~5, p. 491--8, may 2011.
ISSN 1546-1718.
Dispon{\'\i}vel em:
\url{http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=3083463{\&}tool=pmcentrez{\&}rendertype=abstract
www.ncbi.nlm.nih.gov/pubmed/21}.}
\bibitem[Durbin et al. 2010]{Abecasis2010}
\abntrefinfo{Durbin et al.}{DURBIN et al.}{2010}
{DURBIN, R.~M. et al. {A map of human genome variation from population-scale
sequencing}.
\emph{Nature}, v.~467, n.~7319, p. 1061--73, oct 2010.
ISSN 0028-0836.
Dispon{\'\i}vel em: \url{http://dx.doi.org/10.1038/nature09534
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=3042601{\&}tool=pmcentrez{\&}rendertype=ab}.}
\bibitem[Fernald et al. 2011]{Fernald2011a}
\abntrefinfo{Fernald et al.}{FERNALD et al.}{2011}
{FERNALD, G.~H. et al. {Bioinformatics challenges for personalized medicine.}
\emph{Bioinformatics (Oxford, England)}, v.~27, n.~13, p. 1741--8, jul 2011.
ISSN 1367-4811.
Dispon{\'\i}vel em: \url{www.ncbi.nlm.nih.gov/pubmed/21596790}.}
\bibitem[Field et al. 2006]{Field2006}
\abntrefinfo{Field et al.}{FIELD et al.}{2006}
{FIELD, D. et al. {Open software for biologists: from famine to feast.}
\emph{Nature biotechnology}, v.~24, n.~7, p. 801--3, jul 2006.
ISSN 1087-0156.
Dispon{\'\i}vel em: \url{http://www.ncbi.nlm.nih.gov/pubmed/16841067}.}
\bibitem[Fu et al. 2013]{Fu2013}
\abntrefinfo{Fu et al.}{FU et al.}{2013}
{FU, W. et al. {Analysis of 6,515 exomes reveals the recent origin of most
human protein-coding variants.}
\emph{Nature}, v.~493, n.~7431, p. 216--20, jan 2013.
ISSN 1476-4687.
Dispon{\'\i}vel em: \url{http://www.ncbi.nlm.nih.gov/pubmed/23201682}.}
\bibitem[Gebbia et al. 1997]{Gebbia1997}
\abntrefinfo{Gebbia et al.}{GEBBIA et al.}{1997}
{GEBBIA, M. et al. {X-linked situs abnormalities result from mutations in
ZIC3.}
\emph{Nature genetics}, 1997.}
\bibitem[Gray et al. 2013]{Gray2013}
\abntrefinfo{Gray et al.}{GRAY et al.}{2013}
{GRAY, K.~a. et al. {Genenames.org: the HGNC resources in 2013.}
\emph{Nucleic acids research}, v.~41, n. Database issue, p. D545--52, jan 2013.
ISSN 1362-4962.
Dispon{\'\i}vel em: \url{www.ncbi.nlm.nih.gov/pubmed/23161694}.}
\bibitem[Green et al. 2013]{Green2013}
\abntrefinfo{Green et al.}{GREEN et al.}{2013}
{GREEN, R.~C. et al. {ACMG recommendations for reporting of incidental findings
in clinical exome and genome sequencing.}
\emph{Genetics in medicine : official journal of the American College of
Medical Genetics}, v.~15, n.~7, p. 565--74, jul 2013.
ISSN 1530-0366.
Dispon{\'\i}vel em:
\url{http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=3892767{\&}tool=pmcentrez{\&}rendertype=ab}.}
\bibitem[Gymrek et al. 2012]{Gymrek2012}
\abntrefinfo{Gymrek et al.}{GYMREK et al.}{2012}
{GYMREK, M. et al. {lobSTR: A short tandem repeat profiler for personal
genomes}.
\emph{Genome Research}, v.~22, n.~6, p. 1154--1162, 2012.
ISSN 10889051.}
\bibitem[Hal{\'{a}}sz et al. 2008]{Halasz2008}
\abntrefinfo{Hal{\'{a}}sz et al.}{HAL{\'{A}}SZ et al.}{2008}
{HAL{\'{A}}SZ, Z. et al. {Laterality disturbance and hypopituitarism. A case
report of co-existing situs inversus totalis and combined pituitary hormone
deficiency.}
\emph{Journal of endocrinological investigation}, v.~31, n.~1, p. 74--8, jan
2008.
ISSN 1720-8386.
Dispon{\'\i}vel em: \url{http://www.ncbi.nlm.nih.gov/pubmed/18296909}.}
\bibitem[Haraksingh e Snyder 2013]{Haraksingh2013}
\abntrefinfo{Haraksingh e Snyder}{HARAKSINGH; SNYDER}{2013}
{HARAKSINGH, R.~R.; SNYDER, M.~P. {Impacts of variation in the human genome on
gene regulation}.
\emph{Journal of Molecular Biology}, The Authors, v.~425, n.~21, p. 3970--3977,
2013.
ISSN 00222836.
Dispon{\'\i}vel em: \url{http://dx.doi.org/10.1016/j.jmb.2013.07.015}.}
\bibitem[Hogeweg 2011]{Hogeweg2011}
\abntrefinfo{Hogeweg}{HOGEWEG}{2011}
{HOGEWEG, P. {The roots of bioinformatics in theoretical biology.}
\emph{PLoS computational biology}, v.~7, n.~3, p. e1002021, mar 2011.
ISSN 1553-7358.
Dispon{\'\i}vel em: \url{www.ncbi.nlm.nih.gov/pubmed/21483479}.}
\bibitem[Homer, Merriman e Nelson 2009]{Homer2009}
\abntrefinfo{Homer, Merriman e Nelson}{HOMER; MERRIMAN; NELSON}{2009}
{HOMER, N.; MERRIMAN, B.; NELSON, S.~F. {BFAST: an alignment tool for large
scale genome resequencing.}
\emph{PloS one}, v.~4, n.~11, p. e7767, jan 2009.
ISSN 1932-6203.
Dispon{\'\i}vel em: \url{www.ncbi.nlm.nih.gov/pubmed/19907642
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=2770639{\&}tool=pmcentrez{\&}rendertype=ab}.}
\bibitem[Hu et al. 2015]{Hu2015}
\abntrefinfo{Hu et al.}{HU et al.}{2015}
{HU, H. et al. {X-exome sequencing of 405 unresolved families identifies seven
novel intellectual disability genes}.
\emph{Molecular Psychiatry}, n. August 2014, p. 1--16, 2015.
ISSN 1359-4184.
Dispon{\'\i}vel em: \url{http://www.nature.com/doifinder/10.1038/mp.2014.193}.}
\bibitem[Jameson e Longo 2015]{Jameson}
\abntrefinfo{Jameson e Longo}{JAMESON; LONGO}{2015}
{JAMESON, J.~L.; LONGO, D.~L. {Precision Medicine — Personalized,
Problematic, and Promising}.
\emph{New England Journal of Medicine}, v.~372, n.~23, p. 2229--2234, jun 2015.
ISSN 0028-4793.
Dispon{\'\i}vel em: \url{http://www.nejm.org/doi/abs/10.1056/NEJMsb1503104}.}
\bibitem[Kircher et al. 2014]{Kircher2014a}
\abntrefinfo{Kircher et al.}{KIRCHER et al.}{2014}
{KIRCHER, M. et al. {A general framework for estimating the relative
pathogenicity of human genetic variants.}
\emph{Nature genetics}, Nature Publishing Group, v.~46, n.~3, p. 310--5, mar
2014.
ISSN 1546-1718.
Dispon{\'\i}vel em: \url{http://www.ncbi.nlm.nih.gov/pubmed/24487276
http://www.nature.com/ng/journal/v46/n3/abs/ng.2892.html}.}
\bibitem[Krumm et al. 2012]{Krumm2012a}
\abntrefinfo{Krumm et al.}{KRUMM et al.}{2012}
{KRUMM, N. et al. {Copy number variation detection and genotyping from exome
sequence data.}
\emph{Genome research}, v.~22, n.~8, p. 1525--32, aug 2012.
ISSN 1549-5469.
Dispon{\'\i}vel em:
\url{http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=3409265{\&}tool=pmcentrez{\&}rendertype=ab}.}
\bibitem[Kulikowski et al. 2012]{Kulikowski2012}
\abntrefinfo{Kulikowski et al.}{KULIKOWSKI et al.}{2012}
{KULIKOWSKI, C.~a. et al. {AMIA Board white paper: definition of biomedical
informatics and specification of core competencies for graduate education in
the discipline}.
\emph{Journal of the American Medical Informatics Association}, v.~19, n.~6, p.
931--938, 2012.
ISSN 1067-5027.
Dispon{\'\i}vel em:
\url{http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=3534470{\&}tool=pmcentrez{\&}rendertype=abstract
http://www.ncbi.nlm.nih.gov/pubmed/22}.}
\bibitem[Lander et al. 2001]{Lander2001}
\abntrefinfo{Lander et al.}{LANDER et al.}{2001}
{LANDER, E.~S. et al. {Initial sequencing and analysis of the human genome.}
\emph{Nature}, v.~409, n.~6822, p. 860--921, feb 2001.
ISSN 0028-0836.
Dispon{\'\i}vel em: \url{http://www.ncbi.nlm.nih.gov/pubmed/11237011}.}
\bibitem[Langreth e Waldholz 1999]{Langreth1999}
\abntrefinfo{Langreth e Waldholz}{LANGRETH; WALDHOLZ}{1999}
{LANGRETH, R.; WALDHOLZ, M. {New Era of Personalized Medicine : Targeting Drugs
for Each Unique Genetic Profile}.
\emph{The Oncologist}, v.~4, p. 426--427, 1999.
ISSN 1549-490X.}
\bibitem[Li e Durbin 2009]{Li2009b}
\abntrefinfo{Li e Durbin}{LI; DURBIN}{2009}
{LI, H.; DURBIN, R. {Fast and accurate short read alignment with
Burrows-Wheeler transform.}
\emph{Bioinformatics (Oxford, England)}, v.~25, n.~14, p. 1754--60, jul 2009.
ISSN 1367-4811.
Dispon{\'\i}vel em:
\url{http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=2705234{\&}tool=pmcentrez{\&}rendertype=abstract
www.ncbi.nlm.nih.gov/pubmed/19}.}
\bibitem[Li et al. 2012]{Li2012}
\abntrefinfo{Li et al.}{LI et al.}{2012}
{LI, J. et al. {CONTRA: copy number analysis for targeted resequencing.}
\emph{Bioinformatics (Oxford, England)}, v.~28, n.~10, p. 1307--13, may 2012.
ISSN 1367-4811.
Dispon{\'\i}vel em: \url{www.ncbi.nlm.nih.gov/pubmed/22474122
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=3348560{\&}tool=pmcentrez{\&}rendertype=ab}.}
\bibitem[Li et al. 2009]{Li2009a}
\abntrefinfo{Li et al.}{LI et al.}{2009}
{LI, R. et al. {SOAP2: An improved ultrafast tool for short read alignment}.
\emph{Bioinformatics}, v.~25, n.~15, p. 1966--1967, 2009.
ISSN 13674803.}
\bibitem[Linhares et al. 2014]{Linhares2014b}
\abntrefinfo{Linhares et al.}{LINHARES et al.}{2014a}
{LINHARES, N. et al. {Short Communication Modulation of expressivity in
PDGFRB-related infantile myofibromatosis: a role for PTPRG?}
\emph{Genetics and Molecular Research}, v.~13, n.~3, p. 6287--6292, 2014.
ISSN 16765680.
Dispon{\'\i}vel em:
\url{http://www.funpecrp.com.br/gmr/year2014/vol13-3/pdf/gmr5016.pdf}.}
\bibitem[Linhares et al. 2014]{Linhares2014}
\abntrefinfo{Linhares et al.}{LINHARES et al.}{2014b}
{LINHARES, N.~D. et al. {Exome sequencing identifies a novel homozygous variant
in NDRG4 in a family with infantile myofibromatosis}.
\emph{European Journal of Medical Genetics}, Elsevier Masson SAS, v.~57, n.
11-12, p. 643--648, 2014.
ISSN 17697212.
Dispon{\'\i}vel em:
\url{http://linkinghub.elsevier.com/retrieve/pii/S1769721214001712}.}
\bibitem[Liu, Jian e Boerwinkle 2011]{Liu2011b}
\abntrefinfo{Liu, Jian e Boerwinkle}{LIU; JIAN; BOERWINKLE}{2011}
{LIU, X.; JIAN, X.; BOERWINKLE, E. {dbNSFP: A lightweight database of human
nonsynonymous SNPs and their functional predictions}.
\emph{Human Mutation}, v.~32, n.~8, p. 894--899, 2011.
ISSN 10597794.}
\bibitem[Maojo e Kulikowski 2003]{Practice2003}
\abntrefinfo{Maojo e Kulikowski}{MAOJO; KULIKOWSKI}{2003}
{MAOJO, V.; KULIKOWSKI, C.~A. {Bioinformatics and Medical Informatics:
Collaborations on the Road to Genomic Medicine?}
\emph{Journal of the American Medical Informatics Association}, v.~10, n.~6, p.
515--522, nov 2003.
ISSN 1067-5027.
Dispon{\'\i}vel em:
\url{http://jamia.oxfordjournals.org/lookup/doi/10.1197/jamia.M1305}.}
\bibitem[Martin-Sanchez et al. 2004]{Martin-Sanchez2004}
\abntrefinfo{Martin-Sanchez et al.}{MARTIN-SANCHEZ et al.}{2004}
{MARTIN-SANCHEZ, F. et al. {Synergy between medical informatics and
bioinformatics: facilitating genomic medicine for future health care}.
\emph{Journal of Biomedical Informatics}, v.~37, n.~1, p. 30--42, feb 2004.
ISSN 15320464.
Dispon{\'\i}vel em:
\url{http://linkinghub.elsevier.com/retrieve/pii/S1532046403000856}.}
\bibitem[Middleton et al. 2015]{Middleton2015}
\abntrefinfo{Middleton et al.}{MIDDLETON et al.}{2015}
{MIDDLETON, A. et al. {Attitudes of nearly 7000 health professionals, genomic
researchers and publics toward the return of incidental results from
sequencing research}.
\emph{European Journal of Human Genetics}, Nature Publishing Group, n.
February, p.~1--9, 2015.
ISSN 1018-4813.
Dispon{\'\i}vel em:
\url{http://www.nature.com/doifinder/10.1038/ejhg.2015.58}.}
\bibitem[Neesen et al. 2001]{Neesen2001}
\abntrefinfo{Neesen et al.}{NEESEN et al.}{2001}
{NEESEN, J. et al. {Disruption of an inner arm dynein heavy chain gene results
in asthenozoospermia and reduced ciliary beat frequency.}
\emph{Human molecular genetics}, v.~10, n.~11, p. 1117--28, may 2001.
ISSN 0964-6906.
Dispon{\'\i}vel em: \url{http://www.ncbi.nlm.nih.gov/pubmed/11371505}.}
\bibitem[Ng e Henikoff 2003]{Ng2003}
\abntrefinfo{Ng e Henikoff}{NG; HENIKOFF}{2003}
{NG, P.~C.; HENIKOFF, S. {SIFT: Predicting amino acid changes that affect
protein function.}
\emph{Nucleic Acids Research}, v.~31, n.~13, p. 3812--3814, jul 2003.
ISSN 1362-4962.
Dispon{\'\i}vel em:
\url{http://nar.oxfordjournals.org/lookup/doi/10.1093/nar/gkg509
http://linkinghub.elsevier.com/retrieve/pii/S1077314208001331
http://www.ncbi.nlm.nih.gov/pubmed/12824425
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=PMC168916}.}
\bibitem[Ng et al. 2008]{Ng2008}
\abntrefinfo{Ng et al.}{NG et al.}{2008}
{NG, P.~C. et al. {Genetic variation in an individual human exome.}
\emph{PLoS genetics}, v.~4, n.~8, p. e1000160, jan 2008.
ISSN 1553-7404.
Dispon{\'\i}vel em:
\url{http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=2493042{\&}tool=pmcentrez{\&}rendertype=ab}.}
\bibitem[Ng et al. 2010]{Ng2010}
\abntrefinfo{Ng et al.}{NG et al.}{2010}
{NG, S.~B. et al. {Exome sequencing identifies the cause of a mendelian
disorder.}
\emph{Nature genetics}, Nature Publishing Group, v.~42, n.~1, p. 30--5, jan
2010.
ISSN 1546-1718.
Dispon{\'\i}vel em: \url{http://dx.doi.org/10.1038/ng.499
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=2847889{\&}tool=pmcentrez{\&}rendertype=abstract
www.ncbi.nlm.nih.gov/pubmed/19}.}
\bibitem[Ng et al. 2009]{Ng2009}
\abntrefinfo{Ng et al.}{NG et al.}{2009}
{NG, S.~B. et al. {Targeted capture and massively parallel sequencing of 12
human exomes.}
\emph{Nature}, Nature Publishing Group, v.~461, n.~7261, p. 272--6, sep 2009.
ISSN 1476-4687.
Dispon{\'\i}vel em: \url{www.ncbi.nlm.nih.gov/pubmed/19684571
http://dx.doi.org/10.1038/nature08250}.}
\bibitem[Olbrich et al. 2002]{Olbrich2002}
\abntrefinfo{Olbrich et al.}{OLBRICH et al.}{2002}
{OLBRICH, H. et al. {Mutations in DNAH5 cause primary ciliary dyskinesia and
randomization of left-right asymmetry.}
\emph{Nature genetics}, v.~30, n.~2, p. 143--144, feb 2002.
ISSN 10614036.
Dispon{\'\i}vel em: \url{http://www.ncbi.nlm.nih.gov/pubmed/11788826}.}
\bibitem[Perles et al. 2012]{Perles2012}
\abntrefinfo{Perles et al.}{PERLES et al.}{2012}
{PERLES, Z. et al. {A human laterality disorder associated with recessive
CCDC11 mutation.}
\emph{Journal of medical genetics}, v.~49, n.~6, p. 386--90, jun 2012.
ISSN 1468-6244.
Dispon{\'\i}vel em: \url{http://www.ncbi.nlm.nih.gov/pubmed/22577226}.}
\bibitem[Rossum 1995]{python}
\abntrefinfo{Rossum}{ROSSUM}{1995}
{ROSSUM, G.~V. \emph{{Python Software Foundation. Python Language Reference,
version 2.7}}. 1995.}
\bibitem[Stenson et al. 2009]{Stenson2009}
\abntrefinfo{Stenson et al.}{STENSON et al.}{2009}
{STENSON, P.~D. et al. {The Human Gene Mutation Database: 2008 update.}
\emph{Genome medicine}, v.~1, n.~1, p.~13, jan 2009.
ISSN 1756-994X.
Dispon{\'\i}vel em:
\url{http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=2651586{\&}tool=pmcentrez{\&}rendertype=abstract
www.ncbi.nlm.nih.gov/pubmed/19}.}
\bibitem[Taylor, Ponting e Copley 2004]{Taylor2004}
\abntrefinfo{Taylor, Ponting e Copley}{TAYLOR; PONTING; COPLEY}{2004}
{TAYLOR, M.~S.; PONTING, C.~P.; COPLEY, R.~R. {Occurrence and Consequences of
Coding Sequence Insertions and Deletions in Mammalian Genomes Occurrence and
Consequences of Coding Sequence Insertions and Deletions in Mammalian
Genomes}.
p. 555--566, 2004.
ISSN 1088-9051.}
\bibitem[Venter et al. 2001]{Venter2001}
\abntrefinfo{Venter et al.}{VENTER et al.}{2001}
{VENTER, J.~C. et al. {The sequence of the human genome.}
\emph{Science (New York, N.Y.)}, v.~291, n.~5507, p. 1304--1351, feb 2001.
ISSN 0036-8075.
Dispon{\'\i}vel em: \url{http://www.ncbi.nlm.nih.gov/pubmed/11181995}.}
\bibitem[Viaroli 2012]{Viaroli2012}
\abntrefinfo{Viaroli}{VIAROLI}{2012}
{VIAROLI, F. {Panhypopituitarism, a Cause of Early Sudden Infant Death
Syndrome?}
\emph{Journal of Clinical Case Reports}, v.~02, n.~13, p.~2--4, 2012.
ISSN 21657920.
Dispon{\'\i}vel em:
\url{http://www.omicsgroup.org/journals/2165-7920/2165-7920-2-193.digital/2165-7920-2-193.html}.}
\bibitem[Wang, Li e Hakonarson 2010]{Wang2010}
\abntrefinfo{Wang, Li e Hakonarson}{WANG; LI; HAKONARSON}{2010}
{WANG, K.; LI, M.; HAKONARSON, H. {ANNOVAR: functional annotation of genetic
variants from high-throughput sequencing data.}
\emph{Nucleic acids research}, v.~38, n.~16, p.~e164, sep 2010.
ISSN 1362-4962.
Dispon{\'\i}vel em:
\url{http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=2938201{\&}tool=pmcentrez{\&}rendertype=ab}.}
\bibitem[Yang et al. 2013]{Yang2013b}
\abntrefinfo{Yang et al.}{YANG et al.}{2013}
{YANG, Y. et al. {Clinical whole-exome sequencing for the diagnosis of
mendelian disorders.}
\emph{The New England journal of medicine}, v.~369, n.~16, p. 1502--11, 2013.
ISSN 1533-4406.
Dispon{\'\i}vel em: \url{http://www.ncbi.nlm.nih.gov/pubmed/24088041}.}
\end{thebibliography}