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\bibcite{biomed_info}{Adams 1991}
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\bibciteYEAR{biomed_info}{1991}
\bibcite{Adzhubei2013}{Adzhubei, Jordan e Sunyaev 2013}
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\bibciteIMPL{Adzhubei2013}{ADZHUBEI; JORDAN; SUNYAEV}
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\bibcite{Bamshad2011a}{Bamshad et al. 2011}
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\bibciteIMPL{Bartoloni2002}{BARTOLONI et al.}
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\bibcite{Bernstam2010}{Bernstam, Smith e Johnson 2010}
\bibciteEXPL{Bernstam2010}{Bernstam, Smith e Johnson}
\bibciteIMPL{Bernstam2010}{BERNSTAM; SMITH; JOHNSON}
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\bibcite{Report}{BHATT e BHADKAMKAR 1959}
\bibciteEXPL{Report}{BHATT e BHADKAMKAR}
\bibciteIMPL{Report}{BHATT; BHADKAMKAR}
\bibciteYEAR{Report}{1959}
\bibcite{Carrozzo2007}{Carrozzo et al. 2007}
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\bibciteIMPL{Carrozzo2007}{CARROZZO et al.}
\bibciteYEAR{Carrozzo2007}{2007}
\bibcite{Choi2009}{Choi et al. 2009}
\bibciteEXPL{Choi2009}{Choi et al.}
\bibciteIMPL{Choi2009}{CHOI et al.}
\bibciteYEAR{Choi2009}{2009}
\bibcite{Chong2015}{Chong et al. 2015}
\bibciteEXPL{Chong2015}{Chong et al.}
\bibciteIMPL{Chong2015}{CHONG et al.}
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\bibcite{Collins2015}{Collins e Varmus 2015}
\bibciteEXPL{Collins2015}{Collins e Varmus}
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\bibciteYEAR{Collins2015}{2015}
\bibcite{Danecek2011}{Danecek et al. 2011}
\bibciteEXPL{Danecek2011}{Danecek et al.}
\bibciteIMPL{Danecek2011}{DANECEK et al.}
\bibciteYEAR{Danecek2011}{2011}
\bibcite{DePristo2011}{DePristo et al. 2011}
\bibciteEXPL{DePristo2011}{DePristo et al.}
\bibciteIMPL{DePristo2011}{DEPRISTO et al.}
\bibciteYEAR{DePristo2011}{2011}
\bibcite{Abecasis2010}{Durbin et al. 2010}
\bibciteEXPL{Abecasis2010}{Durbin et al.}
\bibciteIMPL{Abecasis2010}{DURBIN et al.}
\bibciteYEAR{Abecasis2010}{2010}
\bibcite{Fernald2011a}{Fernald et al. 2011}
\bibciteEXPL{Fernald2011a}{Fernald et al.}
\bibciteIMPL{Fernald2011a}{FERNALD et al.}
\bibciteYEAR{Fernald2011a}{2011}
\bibcite{Field2006}{Field et al. 2006}
\bibciteEXPL{Field2006}{Field et al.}
\bibciteIMPL{Field2006}{FIELD et al.}
\bibciteYEAR{Field2006}{2006}
\bibcite{Fu2013}{Fu et al. 2013}
\bibciteEXPL{Fu2013}{Fu et al.}
\bibciteIMPL{Fu2013}{FU et al.}
\bibciteYEAR{Fu2013}{2013}
\bibcite{Gebbia1997}{Gebbia et al. 1997}
\bibciteEXPL{Gebbia1997}{Gebbia et al.}
\bibciteIMPL{Gebbia1997}{GEBBIA et al.}
\bibciteYEAR{Gebbia1997}{1997}
\bibcite{Gray2013}{Gray et al. 2013}
\bibciteEXPL{Gray2013}{Gray et al.}
\bibciteIMPL{Gray2013}{GRAY et al.}
\bibciteYEAR{Gray2013}{2013}
\bibcite{Green2013}{Green et al. 2013}
\bibciteEXPL{Green2013}{Green et al.}
\bibciteIMPL{Green2013}{GREEN et al.}
\bibciteYEAR{Green2013}{2013}
\bibcite{Gymrek2012}{Gymrek et al. 2012}
\bibciteEXPL{Gymrek2012}{Gymrek et al.}
\bibciteIMPL{Gymrek2012}{GYMREK et al.}
\bibciteYEAR{Gymrek2012}{2012}
\bibcite{Halasz2008}{Hal{\'{a}}sz et al. 2008}
\bibciteEXPL{Halasz2008}{Hal{\'{a}}sz et al.}
\bibciteIMPL{Halasz2008}{HAL{\'{A}}SZ et al.}
\bibciteYEAR{Halasz2008}{2008}
\bibcite{Haraksingh2013}{Haraksingh e Snyder 2013}
\bibciteEXPL{Haraksingh2013}{Haraksingh e Snyder}
\bibciteIMPL{Haraksingh2013}{HARAKSINGH; SNYDER}
\bibciteYEAR{Haraksingh2013}{2013}
\bibcite{Hogeweg2011}{Hogeweg 2011}
\bibciteEXPL{Hogeweg2011}{Hogeweg}
\bibciteIMPL{Hogeweg2011}{HOGEWEG}
\bibciteYEAR{Hogeweg2011}{2011}
\bibcite{Homer2009}{Homer, Merriman e Nelson 2009}
\bibciteEXPL{Homer2009}{Homer, Merriman e Nelson}
\bibciteIMPL{Homer2009}{HOMER; MERRIMAN; NELSON}
\bibciteYEAR{Homer2009}{2009}
\bibcite{Hu2015}{Hu et al. 2015}
\bibciteEXPL{Hu2015}{Hu et al.}
\bibciteIMPL{Hu2015}{HU et al.}
\bibciteYEAR{Hu2015}{2015}
\bibcite{Jameson}{Jameson e Longo 2015}
\bibciteEXPL{Jameson}{Jameson e Longo}
\bibciteIMPL{Jameson}{JAMESON; LONGO}
\bibciteYEAR{Jameson}{2015}
\bibcite{Kircher2014a}{Kircher et al. 2014}
\bibciteEXPL{Kircher2014a}{Kircher et al.}
\bibciteIMPL{Kircher2014a}{KIRCHER et al.}
\bibciteYEAR{Kircher2014a}{2014}
\bibcite{Krumm2012a}{Krumm et al. 2012}
\bibciteEXPL{Krumm2012a}{Krumm et al.}
\bibciteIMPL{Krumm2012a}{KRUMM et al.}
\bibciteYEAR{Krumm2012a}{2012}
\bibcite{Kulikowski2012}{Kulikowski et al. 2012}
\bibciteEXPL{Kulikowski2012}{Kulikowski et al.}
\bibciteIMPL{Kulikowski2012}{KULIKOWSKI et al.}
\bibciteYEAR{Kulikowski2012}{2012}
\bibcite{Lander2001}{Lander et al. 2001}
\bibciteEXPL{Lander2001}{Lander et al.}
\bibciteIMPL{Lander2001}{LANDER et al.}
\bibciteYEAR{Lander2001}{2001}
\bibcite{Langreth1999}{Langreth e Waldholz 1999}
\bibciteEXPL{Langreth1999}{Langreth e Waldholz}
\bibciteIMPL{Langreth1999}{LANGRETH; WALDHOLZ}
\bibciteYEAR{Langreth1999}{1999}
\bibcite{Li2009b}{Li e Durbin 2009}
\bibciteEXPL{Li2009b}{Li e Durbin}
\bibciteIMPL{Li2009b}{LI; DURBIN}
\bibciteYEAR{Li2009b}{2009}
\bibcite{Li2012}{Li et al. 2012}
\bibciteEXPL{Li2012}{Li et al.}
\bibciteIMPL{Li2012}{LI et al.}
\bibciteYEAR{Li2012}{2012}
\bibcite{Li2009a}{Li et al. 2009}
\bibciteEXPL{Li2009a}{Li et al.}
\bibciteIMPL{Li2009a}{LI et al.}
\bibciteYEAR{Li2009a}{2009}
\bibcite{Linhares2014b}{Linhares et al. 2014}
\bibciteEXPL{Linhares2014b}{Linhares et al.}
\bibciteIMPL{Linhares2014b}{LINHARES et al.}
\bibciteYEAR{Linhares2014b}{2014a}
\bibcite{Linhares2014}{Linhares et al. 2014}
\bibciteEXPL{Linhares2014}{Linhares et al.}
\bibciteIMPL{Linhares2014}{LINHARES et al.}
\bibciteYEAR{Linhares2014}{2014b}
\bibcite{Liu2011b}{Liu, Jian e Boerwinkle 2011}
\bibciteEXPL{Liu2011b}{Liu, Jian e Boerwinkle}
\bibciteIMPL{Liu2011b}{LIU; JIAN; BOERWINKLE}
\bibciteYEAR{Liu2011b}{2011}
\bibcite{Practice2003}{Maojo e Kulikowski 2003}
\bibciteEXPL{Practice2003}{Maojo e Kulikowski}
\bibciteIMPL{Practice2003}{MAOJO; KULIKOWSKI}
\bibciteYEAR{Practice2003}{2003}
\bibcite{Martin-Sanchez2004}{Martin-Sanchez et al. 2004}
\bibciteEXPL{Martin-Sanchez2004}{Martin-Sanchez et al.}
\bibciteIMPL{Martin-Sanchez2004}{MARTIN-SANCHEZ et al.}
\bibciteYEAR{Martin-Sanchez2004}{2004}
\bibcite{Middleton2015}{Middleton et al. 2015}
\bibciteEXPL{Middleton2015}{Middleton et al.}
\bibciteIMPL{Middleton2015}{MIDDLETON et al.}
\bibciteYEAR{Middleton2015}{2015}
\bibcite{Neesen2001}{Neesen et al. 2001}
\bibciteEXPL{Neesen2001}{Neesen et al.}
\bibciteIMPL{Neesen2001}{NEESEN et al.}
\bibciteYEAR{Neesen2001}{2001}
\bibcite{Ng2003}{Ng e Henikoff 2003}
\bibciteEXPL{Ng2003}{Ng e Henikoff}
\bibciteIMPL{Ng2003}{NG; HENIKOFF}
\bibciteYEAR{Ng2003}{2003}
\bibcite{Ng2008}{Ng et al. 2008}
\bibciteEXPL{Ng2008}{Ng et al.}
\bibciteIMPL{Ng2008}{NG et al.}
\bibciteYEAR{Ng2008}{2008}
\bibcite{Ng2010}{Ng et al. 2010}
\bibciteEXPL{Ng2010}{Ng et al.}
\bibciteIMPL{Ng2010}{NG et al.}
\bibciteYEAR{Ng2010}{2010}
\bibcite{Ng2009}{Ng et al. 2009}
\bibciteEXPL{Ng2009}{Ng et al.}
\bibciteIMPL{Ng2009}{NG et al.}
\bibciteYEAR{Ng2009}{2009}
\bibcite{Olbrich2002}{Olbrich et al. 2002}
\bibciteEXPL{Olbrich2002}{Olbrich et al.}
\bibciteIMPL{Olbrich2002}{OLBRICH et al.}
\bibciteYEAR{Olbrich2002}{2002}
\bibcite{Perles2012}{Perles et al. 2012}
\bibciteEXPL{Perles2012}{Perles et al.}
\bibciteIMPL{Perles2012}{PERLES et al.}
\bibciteYEAR{Perles2012}{2012}
\bibcite{python}{Rossum 1995}
\bibciteEXPL{python}{Rossum}
\bibciteIMPL{python}{ROSSUM}
\bibciteYEAR{python}{1995}
\bibcite{Stenson2009}{Stenson et al. 2009}
\bibciteEXPL{Stenson2009}{Stenson et al.}
\bibciteIMPL{Stenson2009}{STENSON et al.}
\bibciteYEAR{Stenson2009}{2009}
\bibcite{Taylor2004}{Taylor, Ponting e Copley 2004}
\bibciteEXPL{Taylor2004}{Taylor, Ponting e Copley}
\bibciteIMPL{Taylor2004}{TAYLOR; PONTING; COPLEY}
\bibciteYEAR{Taylor2004}{2004}
\bibcite{Venter2001}{Venter et al. 2001}
\bibciteEXPL{Venter2001}{Venter et al.}
\bibciteIMPL{Venter2001}{VENTER et al.}
\bibciteYEAR{Venter2001}{2001}
\bibcite{Viaroli2012}{Viaroli 2012}
\bibciteEXPL{Viaroli2012}{Viaroli}
\bibciteIMPL{Viaroli2012}{VIAROLI}
\bibciteYEAR{Viaroli2012}{2012}
\bibcite{Wang2010}{Wang, Li e Hakonarson 2010}
\bibciteEXPL{Wang2010}{Wang, Li e Hakonarson}
\bibciteIMPL{Wang2010}{WANG; LI; HAKONARSON}
\bibciteYEAR{Wang2010}{2010}
\bibcite{Yang2013b}{Yang et al. 2013}
\bibciteEXPL{Yang2013b}{Yang et al.}
\bibciteIMPL{Yang2013b}{YANG et al.}
\bibciteYEAR{Yang2013b}{2013}
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