Common homozygosity for predicted loss-of-function variants reveals both redundant and advantageous effects of dispensable human genes.

Proc Natl Acad Sci U S A     Antonio Rausell , Yufei Luo , Marie Lopez , Yoann Seeleuthner , Franck Rapaport , Antoine Favier , Peter D Stenson , David N Cooper , Etienne Patin , Jean-Laurent Casanova , Lluis Quintana-Murci , Laurent Abel

The mutational constraint spectrum quantified from variation in 141,456 humans.

Nature     Konrad J Karczewski , Laurent C Francioli , Grace Tiao , Beryl B Cummings , Jessica Alföldi , Qingbo Wang , Ryan L Collins , Kristen M Laricchia , Andrea Ganna , Daniel P Birnbaum , Laura D Gauthier , Harrison Brand , Matthew Solomonson , Nicholas A Watts , Daniel Rhodes , Moriel Singer-Berk , Eleina M England , Eleanor G Seaby , Jack A Kosmicki , Raymond K Walters , Katherine Tashman , Yossi Farjoun , Eric Banks , Timothy Poterba , Arcturus Wang , Cotton Seed , Nicola Whiffin , Jessica X Chong , Kaitlin E Samocha , Emma Pierce-Hoffman , Zachary Zappala , Anne H O'Donnell-Luria , Eric Vallabh Minikel , Ben Weisburd , Monkol Lek , James S Ware , Christopher Vittal , Irina M Armean , Louis Bergelson , Kristian Cibulskis , Kristen M Connolly , Miguel Covarrubias , Stacey Donnelly , Steven Ferriera , Stacey Gabriel , Jeff Gentry , Namrata Gupta , Thibault Jeandet , Diane Kaplan , Christopher Llanwarne , Ruchi Munshi , Sam Novod , Nikelle Petrillo , David Roazen , Valentin Ruano-Rubio , Andrea Saltzman , Molly Schleicher , Jose Soto , Kathleen Tibbetts , Charlotte Tolonen , Gordon Wade , Michael E Talkowski , Genome Aggregation Database Consortium , Benjamin M Neale , Mark J Daly , Daniel G MacArthur

A reference map of the human binary protein interactome.

Nature     Katja Luck , Dae-Kyum Kim , Luke Lambourne , Kerstin Spirohn , Bridget E Begg , Wenting Bian , Ruth Brignall , Tiziana Cafarelli , Francisco J Campos-Laborie , Benoit Charloteaux , Dongsic Choi , Atina G Coté , Meaghan Daley , Steven Deimling , Alice Desbuleux , Amélie Dricot , Marinella Gebbia , Madeleine F Hardy , Nishka Kishore , Jennifer J Knapp , István A Kovács , Irma Lemmens , Miles W Mee , Joseph C Mellor , Carl Pollis , Carles Pons , Aaron D Richardson , Sadie Schlabach , Bridget Teeking , Anupama Yadav , Mariana Babor , Dawit Balcha , Omer Basha , Christian Bowman-Colin , Suet-Feung Chin , Soon Gang Choi , Claudia Colabella , Georges Coppin , Cassandra D'Amata , David De Ridder , Steffi De Rouck , Miquel Duran-Frigola , Hanane Ennajdaoui , Florian Goebels , Liana Goehring , Anjali Gopal , Ghazal Haddad , Elodie Hatchi , Mohamed Helmy , Yves Jacob , Yoseph Kassa , Serena Landini , Roujia Li , Natascha van Lieshout , Andrew MacWilliams , Dylan Markey , Joseph N Paulson , Sudharshan Rangarajan , John Rasla , Ashyad Rayhan , Thomas Rolland , Adriana San-Miguel , Yun Shen , Dayag Sheykhkarimli , Gloria M Sheynkman , Eyal Simonovsky , Murat Taşan , Alexander Tejeda , Vincent Tropepe , Jean-Claude Twizere , Yang Wang , Robert J Weatheritt , Jochen Weile , Yu Xia , Xinping Yang , Esti Yeger-Lotem , Quan Zhong , Patrick Aloy , Gary D Bader , Javier De Las Rivas , Suzanne Gaudet , Tong Hao , Janusz Rak , Jan Tavernier , David E Hill , Marc Vidal , Frederick P Roth , Michael A Calderwood

E3 ubiquitin ligase RNF123 targets lamin B1 and lamin-binding proteins.

FEBS J.     Richa Khanna , Vidhya Krishnamoorthy , Veena K Parnaik

Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity.

Nature     Danish Saleheen , Pradeep Natarajan , Irina M Armean , Wei Zhao , Asif Rasheed , Sumeet A Khetarpal , Hong-Hee Won , Konrad J Karczewski , Anne H O'Donnell-Luria , Kaitlin E Samocha , Benjamin Weisburd , Namrata Gupta , Mozzam Zaidi , Maria Samuel , Atif Imran , Shahid Abbas , Faisal Majeed , Madiha Ishaq , Saba Akhtar , Kevin Trindade , Megan Mucksavage , Nadeem Qamar , Khan Shah Zaman , Zia Yaqoob , Tahir Saghir , Syed Nadeem Hasan Rizvi , Anis Memon , Nadeem Hayyat Mallick , Mohammad Ishaq , Syed Zahed Rasheed , Fazal-Ur-Rehman Memon , Khalid Mahmood , Naveeduddin Ahmed , Ron Do , Ronald M Krauss , Daniel G MacArthur , Stacey Gabriel , Eric S Lander , Mark J Daly , Philippe Frossard , John Danesh , Daniel J Rader , Sekar Kathiresan

Identification of a large set of rare complete human knockouts.

Nat. Genet.     Patrick Sulem , Hannes Helgason , Asmundur Oddson , Hreinn Stefansson , Sigurjon A Gudjonsson , Florian Zink , Eirikur Hjartarson , Gunnar Th Sigurdsson , Adalbjorg Jonasdottir , Aslaug Jonasdottir , Asgeir Sigurdsson , Olafur Th Magnusson , Augustine Kong , Agnar Helgason , Hilma Holm , Unnur Thorsteinsdottir , Gisli Masson , Daniel F Gudbjartsson , Kari Stefansson

A systematic survey of loss-of-function variants in human protein-coding genes.

Science     Daniel G MacArthur , Suganthi Balasubramanian , Adam Frankish , Ni Huang , James Morris , Klaudia Walter , Luke Jostins , Lukas Habegger , Joseph K Pickrell , Stephen B Montgomery , Cornelis A Albers , Zhengdong D Zhang , Donald F Conrad , Gerton Lunter , Hancheng Zheng , Qasim Ayub , Mark A DePristo , Eric Banks , Min Hu , Robert E Handsaker , Jeffrey A Rosenfeld , Menachem Fromer , Mike Jin , Xinmeng Jasmine Mu , Ekta Khurana , Kai Ye , Mike Kay , Gary Ian Saunders , Marie-Marthe Suner , Toby Hunt , If H A Barnes , Clara Amid , Denise R Carvalho-Silva , Alexandra H Bignell , Catherine Snow , Bryndis Yngvadottir , Suzannah Bumpstead , David N Cooper , Yali Xue , Irene Gallego Romero , 1000 Genomes Project Consortium , Jun Wang , Yingrui Li , Richard A Gibbs , Steven A McCarroll , Emmanouil T Dermitzakis , Jonathan K Pritchard , Jeffrey C Barrett , Jennifer Harrow , Matthew E Hurles , Mark B Gerstein , Chris Tyler-Smith

Complete sequencing and characterization of 21,243 full-length human cDNAs.

Nat. Genet.     Toshio Ota , Yutaka Suzuki , Tetsuo Nishikawa , Tetsuji Otsuki , Tomoyasu Sugiyama , Ryotaro Irie , Ai Wakamatsu , Koji Hayashi , Hiroyuki Sato , Keiichi Nagai , Kouichi Kimura , Hiroshi Makita , Mitsuo Sekine , Masaya Obayashi , Tatsunari Nishi , Toshikazu Shibahara , Toshihiro Tanaka , Shizuko Ishii , Jun-ichi Yamamoto , Kaoru Saito , Yuri Kawai , Yuko Isono , Yoshitaka Nakamura , Kenji Nagahari , Katsuhiko Murakami , Tomohiro Yasuda , Takao Iwayanagi , Masako Wagatsuma , Akiko Shiratori , Hiroaki Sudo , Takehiko Hosoiri , Yoshiko Kaku , Hiroyo Kodaira , Hiroshi Kondo , Masanori Sugawara , Makiko Takahashi , Katsuhiro Kanda , Takahide Yokoi , Takako Furuya , Emiko Kikkawa , Yuhi Omura , Kumi Abe , Kumiko Kamihara , Naoko Katsuta , Kazuomi Sato , Machiko Tanikawa , Makoto Yamazaki , Ken Ninomiya , Tadashi Ishibashi , Hiromichi Yamashita , Katsuji Murakawa , Kiyoshi Fujimori , Hiroyuki Tanai , Manabu Kimata , Motoji Watanabe , Susumu Hiraoka , Yoshiyuki Chiba , Shinichi Ishida , Yukio Ono , Sumiyo Takiguchi , Susumu Watanabe , Makoto Yosida , Tomoko Hotuta , Junko Kusano , Keiichi Kanehori , Asako Takahashi-Fujii , Hiroto Hara , Tomo-o Tanase , Yoshiko Nomura , Sakae Togiya , Fukuyo Komai , Reiko Hara , Kazuha Takeuchi , Miho Arita , Nobuyuki Imose , Kaoru Musashino , Hisatsugu Yuuki , Atsushi Oshima , Naokazu Sasaki , Satoshi Aotsuka , Yoko Yoshikawa , Hiroshi Matsunawa , Tatsuo Ichihara , Namiko Shiohata , Sanae Sano , Shogo Moriya , Hiroko Momiyama , Noriko Satoh , Sachiko Takami , Yuko Terashima , Osamu Suzuki , Satoshi Nakagawa , Akihiro Senoh , Hiroshi Mizoguchi , Yoshihiro Goto , Fumio Shimizu , Hirokazu Wakebe , Haretsugu Hishigaki , Takeshi Watanabe , Akio Sugiyama , Makoto Takemoto , Bunsei Kawakami , Masaaki Yamazaki , Koji Watanabe , Ayako Kumagai , Shoko Itakura , Yasuhito Fukuzumi , Yoshifumi Fujimori , Megumi Komiyama , Hiroyuki Tashiro , Akira Tanigami , Tsutomu Fujiwara , Toshihide Ono , Katsue Yamada , Yuka Fujii , Kouichi Ozaki , Maasa Hirao , Yoshihiro Ohmori , Ayako Kawabata , Takeshi Hikiji , Naoko Kobatake , Hiromi Inagaki , Yasuko Ikema , Sachiko Okamoto , Rie Okitani , Takuma Kawakami , Saori Noguchi , Tomoko Itoh , Keiko Shigeta , Tadashi Senba , Kyoka Matsumura , Yoshie Nakajima , Takae Mizuno , Misato Morinaga , Masahide Sasaki , Takushi Togashi , Masaaki Oyama , Hiroko Hata , Manabu Watanabe , Takami Komatsu , Junko Mizushima-Sugano , Tadashi Satoh , Yuko Shirai , Yukiko Takahashi , Kiyomi Nakagawa , Koji Okumura , Takahiro Nagase , Nobuo Nomura , Hisashi Kikuchi , Yasuhiko Masuho , Riu Yamashita , Kenta Nakai , Tetsushi Yada , Yusuke Nakamura , Osamu Ohara , Takao Isogai , Sumio Sugano

The DNA sequence and analysis of human chromosome 6.

Nature     A J Mungall , S A Palmer , S K Sims , C A Edwards , J L Ashurst , L Wilming , M C Jones , R Horton , S E Hunt , C E Scott , J G R Gilbert , M E Clamp , G Bethel , S Milne , R Ainscough , J P Almeida , K D Ambrose , T D Andrews , R I S Ashwell , A K Babbage , C L Bagguley , J Bailey , R Banerjee , D J Barker , K F Barlow , K Bates , D M Beare , H Beasley , O Beasley , C P Bird , S Blakey , S Bray-Allen , J Brook , A J Brown , J Y Brown , D C Burford , W Burrill , J Burton , C Carder , N P Carter , J C Chapman , S Y Clark , G Clark , C M Clee , S Clegg , V Cobley , R E Collier , J E Collins , L K Colman , N R Corby , G J Coville , K M Culley , P Dhami , J Davies , M Dunn , M E Earthrowl , A E Ellington , K A Evans , L Faulkner , M D Francis , A Frankish , J Frankland , L French , P Garner , J Garnett , M J R Ghori , L M Gilby , C J Gillson , R J Glithero , D V Grafham , M Grant , S Gribble , C Griffiths , M Griffiths , R Hall , K S Halls , S Hammond , J L Harley , E A Hart , P D Heath , R Heathcott , S J Holmes , P J Howden , K L Howe , G R Howell , E Huckle , S J Humphray , M D Humphries , A R Hunt , C M Johnson , A A Joy , M Kay , S J Keenan , A M Kimberley , A King , G K Laird , C Langford , S Lawlor , D A Leongamornlert , M Leversha , C R Lloyd , D M Lloyd , J E Loveland , J Lovell , S Martin , M Mashreghi-Mohammadi , G L Maslen , L Matthews , O T McCann , S J McLaren , K McLay , A McMurray , M J F Moore , J C Mullikin , D Niblett , T Nickerson , K L Novik , K Oliver , E K Overton-Larty , A Parker , R Patel , A V Pearce , A I Peck , B Phillimore , S Phillips , R W Plumb , K M Porter , Y Ramsey , S A Ranby , C M Rice , M T Ross , S M Searle , H K Sehra , E Sheridan , C D Skuce , S Smith , M Smith , L Spraggon , S L Squares , C A Steward , N Sycamore , G Tamlyn-Hall , J Tester , A J Theaker , D W Thomas , A Thorpe , A Tracey , A Tromans , B Tubby , M Wall , J M Wallis , A P West , S S White , S L Whitehead , H Whittaker , A Wild , D J Willey , T E Wilmer , J M Wood , P W Wray , J C Wyatt , L Young , R M Younger , D R Bentley , A Coulson , R Durbin , T Hubbard , J E Sulston , I Dunham , J Rogers , S Beck

Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.

Proc. Natl. Acad. Sci. U.S.A.     Robert L Strausberg , Elise A Feingold , Lynette H Grouse , Jeffery G Derge , Richard D Klausner , Francis S Collins , Lukas Wagner , Carolyn M Shenmen , Gregory D Schuler , Stephen F Altschul , Barry Zeeberg , Kenneth H Buetow , Carl F Schaefer , Narayan K Bhat , Ralph F Hopkins , Heather Jordan , Troy Moore , Steve I Max , Jun Wang , Florence Hsieh , Luda Diatchenko , Kate Marusina , Andrew A Farmer , Gerald M Rubin , Ling Hong , Mark Stapleton , M Bento Soares , Maria F Bonaldo , Tom L Casavant , Todd E Scheetz , Michael J Brownstein , Ted B Usdin , Shiraki Toshiyuki , Piero Carninci , Christa Prange , Sam S Raha , Naomi A Loquellano , Garrick J Peters , Rick D Abramson , Sara J Mullahy , Stephanie A Bosak , Paul J McEwan , Kevin J McKernan , Joel A Malek , Preethi H Gunaratne , Stephen Richards , Kim C Worley , Sarah Hale , Angela M Garcia , Laura J Gay , Stephen W Hulyk , Debbie K Villalon , Donna M Muzny , Erica J Sodergren , Xiuhua Lu , Richard A Gibbs , Jessica Fahey , Erin Helton , Mark Ketteman , Anuradha Madan , Stephanie Rodrigues , Amy Sanchez , Michelle Whiting , Anup Madan , Alice C Young , Yuriy Shevchenko , Gerard G Bouffard , Robert W Blakesley , Jeffrey W Touchman , Eric D Green , Mark C Dickson , Alex C Rodriguez , Jane Grimwood , Jeremy Schmutz , Richard M Myers , Yaron S N Butterfield , Martin I Krzywinski , Ursula Skalska , Duane E Smailus , Angelique Schnerch , Jacqueline E Schein , Steven J M Jones , Marco A Marra , Mammalian Gene Collection Program Team